Evidence of Rubus Yellow Net Virus Integration into the Red Raspberry Genome
In this study, bio-indexing and different molecular techniques were emp loyed to differentiate between integrated and episomal RYNV sequences. Reverse transcription-PCR using RYNV-specific oligonucleotides after DNase treatment generated positive results for the virus in graft transmissible isolates (episomal) only. To confirm these results, rolling circle amplification on DNA preparations from the same samples resulted in amplicons identified as RYNV only from plants with graft transmissible RYNV. High-throughput sequencing was used to identify the RYNV-like sequences present in the host DNA. These results indicate the in...
Source: Cytogenetic and Genome Research - July 17, 2020 Category: Genetics & Stem Cells Source Type: research

Intra-Protein Coevolution Is Increasingly Functional with Greater Proximity to Fertilization
In this study, we investigated both aspects in equally sized sets of mammalian proteins representing spermatozoa, testis, entire body, and liver. For coevolutionary analyses, we derived the proportion of covarying sites per protein from amino acid alignments of 10 mammalian orthologues each. In confirmation of the validity of our coevolution proxy, we found positive associations with the nonsynonymous or amino acid substitution rate in all protein sets. However, our coevolution proxy negatively correlated with the number of protein interactants (node degree) in male reproductive protein sets alone. In addition, a negative ...
Source: Cytogenetic and Genome Research - July 17, 2020 Category: Genetics & Stem Cells Source Type: research

Comparative Functional Analysis in vitro of 2 < b > < i > COL4A5 < /i > < /b > Splicing Mutations at the Same Site in 2 Unrelated Alport Syndrome Chinese Families
X-linked Alport syndrome (XLAS) is a common hereditary nephropathy caused byCOL4A5gene mutations. To date, many splice site mutations have been described but few have been functionally analyzed to verify the exact splicing effects that contribute to disease pathogenesis. Here, we accidentally discovered 2COL4A5 gene splicing mutations affecting the same residue (c.2917+1G>A and c.2917+1G>C) in 2 unrelated Chinese families. In vitro minigene assays showed that the 2 mutations produced 3 transcripts in H293T cells: one with a 96-bp deletion in exon 33, one with exon 33 skipping, and one with exon 33-34 skipping. Howeve...
Source: Cytogenetic and Genome Research - July 13, 2020 Category: Genetics & Stem Cells Source Type: research

Loss of Chromosome Y and Its Potential Applications as Biomarker in Health and Forensic Sciences
Loss of chromosome Y (LOY) is a mosaic aneuploidy that can be detected mainly in blood samples of male individuals. Usually, LOY occurrence increases with chronological age in healthy men. Moreover, recently LOY has been reported in association with several diseases, such as cancer, where its frequency is even higher. The Y chromosome is one of the shortest chromosomes of the human karyotype, and it is crucial for correct male development. This chromosome has functions beyond the male reproductive system, and loss of its genes or even LOY can have consequences for the male body that are yet to be elucidated. Analyses of th...
Source: Cytogenetic and Genome Research - July 13, 2020 Category: Genetics & Stem Cells Source Type: research

Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping
This report provides novel insights, including a rare form of UPD, usage of homozygosity mapping analysis for the evaluation of isodisomy, and the first reported case of WARBM1 as a result of uniparental isodisomy.Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - June 27, 2020 Category: Genetics & Stem Cells Source Type: research

Narrowing down the Common Cytogenetic Deletion 14q to a 5.6-Mb Critical Region in 1p/19q Codeletion Oligodendroglioma-Relapsed Patients Points to Two Potential Relapse-Related Genes: < b > < i > SEL1L < /i > < /b > and < b > < i > STON2 < /i > < /b >
Based on a literature review and our database, we report on the smallest 14q deletion identified in a brain tumor characterized by 1p/19q codeletion low-grade oligodendroglioma. In 2013, array-comparative genomic hybridization of the brain tumor revealed 1p/19q codeletion as a sole abnormality. In 2019, the patient relapsed showing additional abnormalities including a 14q deletion of 16.5 Mb at 14q24.2q31.3. This region overlaps with 2 previously identified minimal regions, 14q21.2q24.3 and 14q31.3q32.1, based on 142 cases of glioma. The authors reported no correlation between these 2 regions and survival. By extracting th...
Source: Cytogenetic and Genome Research - June 24, 2020 Category: Genetics & Stem Cells Source Type: research

X-Chromosome Inactivation during Preimplantation Development and in Pluripotent Stem Cells
X dosage compensation between XX female and XY male mammalian cells is achieved by a process known as X-chromosome inactivation (XCI). XCI initiates early during preimplantation development in female cells, and it is subsequently stably maintained in somatic cells. However, XCI is a reversible process that occurs in vivo in the inner cell mass of the blastocyst, in primordial germ cells or in spermatids during reprogramming. Erasure of transcriptional gene silencing can occur though a mechanism named X-chromosome reactivation (XCR). XCI and XCR have been substantially deciphered in the mouse, whereas they still remain deba...
Source: Cytogenetic and Genome Research - June 24, 2020 Category: Genetics & Stem Cells Source Type: research

Truncated RUNX1 Generated by the Fusion of < b > < i > RUNX1 < /i > < /b > to Antisense < b > < i > GRIK2 < /i > < /b > via a Cryptic Chromosome Translocation Enhances Sensitivity to Granulocyte Colony-Stimulating Factor
Fusions of the Runt-related transcription factor 1 (RUNX1) with different partner genes have been associated with various hematological disorders. Interestingly, the C-terminally truncated form of RUNX1 andRUNX1 fusion proteins are similarly considered important contributors to leukemogenesis. Here, we describe a 59-year-old male patient who was initially diagnosed with acute myeloid leukemia, inv(16)(p13;q22)/CBFB-MYH11 (FAB classification M4Eo). He achieved complete remission and negativeCBFB-MYH11 status with daunorubicin/cytarabine combination chemotherapy but relapsed 3 years later. Cytogenetic analysis of relapsed le...
Source: Cytogenetic and Genome Research - June 16, 2020 Category: Genetics & Stem Cells Source Type: research

Disruption of < b > < i > PCDH10 < /i > < /b > and < b > < i > TNRC18 < /i > < /b > Genes due to a Balanced Translocation
In this study, we describe a patient with a balanced reciprocal translocation between 4q27 and 7p22 associated with neurodevelopmental delay. We performed cytogenetic evaluation, next-generation sequencing of microdissected derivative chromosomes, and Sanger sequencing of the junction points to define the translocation's breakpoints at base pair resolution. We found that thePCDH10andTNRC18genes were disrupted by the breakpoints at chromosomes 4 and 7, respectively, with the formation of chimeric genes at the junction points. Gene expression studies in the patient's peripheral blood showed reduced expression ofTNRC18, a gen...
Source: Cytogenetic and Genome Research - June 13, 2020 Category: Genetics & Stem Cells Source Type: research

Sequence Evolution, Abundance, and Chromosomal Distribution of Ty1-copia Retrotransposons in the < b > < i > Saccharum spontaneum < /i > < /b > Genome
This study aims to analyze the sequence heterogeneity, phylogenetic diversity, copy number, and chromosomal dispersion patterns of Ty1-copia retrotransposons inS. spontaneum. A total of 44 Ty1-copia reverse transcriptase subclones isolated fromS. spontaneum showed a range of heterogeneity, and all sequences were A-T rich, averaging approximately 54.59%. Phylogenetic analysis divided the 44 reverse transcriptase sequences into 5 distinct lineages (Retrofit/Ale, Sire/Maximus, Bianca, Tork/TAR, and Ty1-copia like). Dot-blot hybridization revealed that Ty1-copia retrotransposons consisted of a significant component of approxim...
Source: Cytogenetic and Genome Research - June 10, 2020 Category: Genetics & Stem Cells Source Type: research

Different Levels of Chromatin Condensation in < b > < i > Partamona chapadicola < /i > < /b > and < b > < i > Partamona nhambiquara < /i > < /b > (Hymenoptera, Apidae)
Studies in several organisms have contributed to the understanding of heterochromatin and its biological importance. In bees of the tribe Meliponini, the presence of chromosomes with totally heterochromatic arms has been attributed to the mechanism of karyotype evolution in which this group accumulated heterochromatin to maintain telomere stability after centric fission events. In the present study, the use of classical and molecular cytogenetic techniques as well as automated image analysis software for the description of the karyotypes ofPartamonachapadicola andP. nhambiquara bee species revealed variability in the compa...
Source: Cytogenetic and Genome Research - May 30, 2020 Category: Genetics & Stem Cells Source Type: research

Cytogenetic Characterization of a Small Evolutionary Rearrangement Involving Chromosomes BTA21 and OAR18
In conclusion, we showed for the first time, concerning autosomes, that besides the already known centric fusions also other differences exist between the bovine and sheep karyotypes. Furthermore, we demonstrated that the combination of a bioinformatics approach and physical mapping is a valid tool for the identification of currently unknown rearrangements between related species.Cytogenet Genome Res 2020;160:193-198 (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - May 30, 2020 Category: Genetics & Stem Cells Source Type: research

Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss
We report 2 novel cases of Xq24 microdeletions inherited from mothers with extremely skewed X-chromosome inactivation (sXCI). The first case is a boy presenting with X-linked mental retardation, Nascimento type, due to a 168-kb Xq24 microdeletion involving 5 genes (CXorf56, UBE2A, NKRF, SEPT6, andMIR766) inherited from a healthy mother and grandmother with sXCI. In the second family, the presence of a 239-kb Xq24 microdeletion involving 3 additional genes (SLC25A43, SLC25A5-AS1, andSLC25A5) was detected in a woman with sXCI and a history of recurrent pregnancy loss with a maternal family history without reproductive wastag...
Source: Cytogenetic and Genome Research - May 30, 2020 Category: Genetics & Stem Cells Source Type: research

Molecular Cytogenetic Analysis of Karyotype and Y Chromosome Conservation in Species of the Genus < b > < i > Talpa < /i > < /b > (Insectivora)
The Talpidae family has a highly stable karyotype. Most of the chromosome studies in this mammal group, however, employed classical cytogenetic techniques. Molecular cytogenetic analyses are still scarce and, for example, no repeated DNA sequences have been described to date. In this work, we used sequence analysis, chromosomal mapping of a LINE1 retroelement sequence, as well as chromosome painting with a whole Y chromosome probe ofT. occidentalis to compare the karyotypes of 3 species of the genusTalpa (T. occidentalis, T. romana, andT. aquitania). Our results demonstrate that inTalpa genomes LINE1 sequences are widely d...
Source: Cytogenetic and Genome Research - May 9, 2020 Category: Genetics & Stem Cells Source Type: research

Evolution of Bird Sex Chromosomes Narrated by Repetitive Sequences: Unusual W Chromosome Enlargement in < b > < i > Gallinula melanops < /i > < /b > (Aves: Gruiformes: Rallidae)
Among birds, species with the ZZ/ZW sex determination system generally show significant differences in morphology and size between the Z and W chromosomes (with the W usually being smaller than the Z). In the present study, we report for the first time the karyotype of the spot-flanked gallinule (Gallinula melanops) by means of classical and molecular cytogenetics. The spot-flanked gallinule has 2n = 80 (11 pairs of macrochromosomes and 29 pairs of microchromosomes) with an unusual W chromosome that is larger than the Z. Besides being totally heterochromatic, it has a secondary constriction in its long arm corresponding to...
Source: Cytogenetic and Genome Research - July 4, 2019 Category: Genetics & Stem Cells Source Type: research

Unbalanced Y;7 Translocation between Two Low-Similarity Sequences Leading to SRY-Positive 45,X Testicular Disorders of Sex Development
Unbalanced translocations of Y-chromosomal fragments harboring the sex-determining region Y gene (SRY) to the X chromosome or an autosome result in 46,XX and 45,X testicular disorders of sex development (DSD), respectively. Of these, Y;autosome translocation is an extremely rare condition. Here, we identified a 20-year-old man with a 45,X,t(Y;7)(q11.21;q35) karyotype, who exhibited unilateral cryptorchidism, small testis, intellectual disability, and various congenital anomalies. The fusion junction of the translocation was blunt, and the breakpoint-flanking regions shared only 50% similarity. These results indicate that Y...
Source: Cytogenetic and Genome Research - July 3, 2019 Category: Genetics & Stem Cells Source Type: research

Identification and Analysis of lncRNAs by Whole-Transcriptome Sequencing in Porcine Preadipocytes Induced by BMP2
This study aimed to investigate the molecular mechanism of fat deposition and to provide useful information for the prevention and treatment of lipid-related diseases. lncRNA sequencing was performed to compare and analyze, for the first time, the expression of lncRNAs in BMP2-induced and non-BMP2-induced preadipocytes from Junmu1 pigs. In addition, functional annotation and enrichment analysis of differentially expressed lncRNA target genes were carried out. lncRNAs and mRNAs were compared and analyzed. lncRNAs were identified that may regulate adipogenesis and lipid metabolism. The results give a theoretical basis for fu...
Source: Cytogenetic and Genome Research - July 3, 2019 Category: Genetics & Stem Cells Source Type: research

Unbalanced Y;7 Translocation between Two Low-Similarity Sequences Leading to < b > < i > SRY < /i > < /b > -Positive 45,X Testicular Disorders of Sex Development
Unbalanced translocations of Y-chromosomal fragments harboring the sex-determining region Y gene (SRY) to the X chromosome or an autosome result in 46,XX and 45,X testicular disorders of sex development (DSD), respectively. Of these, Y;autosome translocation is an extremely rare condition. Here, we identified a 20-year-old man with a 45,X,t(Y;7)(q11.21;q35) karyotype, who exhibited unilateral cryptorchidism, small testis, intellectual disability, and various congenital anomalies. The fusion junction of the translocation was blunt, and the breakpoint-flanking regions shared only 50% similarity. These results indicate that Y...
Source: Cytogenetic and Genome Research - July 3, 2019 Category: Genetics & Stem Cells Source Type: research

Prenatal Diagnosis of 4q Terminal Deletion and Review of the Literature
We report a prenatally diagnosed case of de novo 4q deletion syndrome confirmed by conventional karyotyping and FISH due to an elevated combined risk for Down syndrome and prenatal ultrasound findings. aCGH validated the diagnosis and offered exact characterization of the disorder. Cytogenetic and microarray results described a 4q32.1qter terminal deletion of the fetus. Prenatal ultrasound detected multiple nonstructural findings (micrognathia, choroid plexus cysts, echogenic fetal bowel, short femur, and cardiac axis deviation). Pregnancy was terminated at 20 weeks. In addition to the index patient, we reviewed the 10 pre...
Source: Cytogenetic and Genome Research - July 1, 2019 Category: Genetics & Stem Cells Source Type: research

Anti-Apoptotic Effects of Docosahexaenoic Acid in IL-1 β-Induced Human Chondrosarcoma Cell Death through Involvement of the MAPK Signaling Pathway
In this study, the human chondrosarcoma cell line SW1353 was cultured in vitro, and an OA cell model was constructed with inflammatory factor IL-1 β stimulation. After cells were treated with DHA, cell apoptosis was measured. Western blot assay was used to detect protein expression of apoptosis-related factors (Bax, Bcl-2, and cleaved caspase-3) and mitogen-activated protein kinase (MAPK) signaling pathway family members, including extracellu lar signal-regulated kinase (ERK), c-JUN N-terminal kinase (JNK), and p38 MAPK. Our results show that IL-1β promotes the apoptosis of SW1353 cells, increases the expression ...
Source: Cytogenetic and Genome Research - July 1, 2019 Category: Genetics & Stem Cells Source Type: research

A Note from the New Editor
Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - June 25, 2019 Category: Genetics & Stem Cells Source Type: research

Chromosomal Localization of 18S-28S rDNA and (TTAGGG)n Sequences in Two South African Dormice of the Genus Graphiurus (Rodentia: Gliridae)
Classical cytogenetics and mapping of 18S-28S rDNA and (TTAGGG)n sequences by fluorescence in situ hybridization (FISH) was performed onGraphiurus platyops (GPL) andGraphiurus ocularis (GOC) metaphases with the aim to characterize the genomes. In both species, inverted DAPI karyotypes showed the same diploid number, 2n = 46, and hybridization of the (TTAGGG)n probe revealed interstitial telomeric sequences (ITSs) at the centromeres of almost all bi-armed chromosomes. FISH with the rDNA probe localized nucleolus organizer regions (NORs), at the terminal ends of the p arms of the subtelocentric pairs 16 and 17 in both specie...
Source: Cytogenetic and Genome Research - June 22, 2019 Category: Genetics & Stem Cells Source Type: research

Considerable Synteny and Sequence Similarity of Primate Chromosomal Region VIIq31
We examined the evolution of the chromosome 7 homologs, and the 7q31 region in particular, using chromosome painting analyses and 3 paint probes derived from (i) the whole of chimpanzee chromosome VII (wcVII), (ii) human 7q31 (h7q31), and (iii) the chimpanzee homolog VIIq31 (cVIIq31). The wcVII probe was used instead of the whole human chromosome 7 because the chimpanzee contains additional C-bands and revealed large areas of synteny conservation as well as fragmentation across 20 primate species. Analyses focusing specifically on the 7q31 homolog and vicinity revealed considerable conservation across lineages with 2 excep...
Source: Cytogenetic and Genome Research - June 21, 2019 Category: Genetics & Stem Cells Source Type: research

Contents Vol. 157, 2019
Cytogenet Genome Res 2019;157:I-IV (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - June 20, 2019 Category: Genetics & Stem Cells Source Type: research

Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel SLCO2A1 Mutation and Imaging Findings
Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis, is a rare, multisystemic, autosomal recessive condition typically presenting with digital clubbing, osteoarthropathy, and various skin manifestations. Radiographs show distinctive periosteal reaction and thickening along the long bones. PHO is caused by homozygous mutations in theHPGD gene in chromosome 4q34.1 or theSLCO2A1 gene in 3q22.1q22.2. Here, we report on a 20-year-old male with enlarged and swollen joints with arthralgia, palmoplantar hyperhidrosis, and large hands and feet with marked digital clubbing. We also present radiographic, ...
Source: Cytogenetic and Genome Research - June 15, 2019 Category: Genetics & Stem Cells Source Type: research

Chromosome Mapping of H1 and H4 Histones in Parodontidae (Actinopterygii: Characiformes): Dispersed and/or Co-Opted Transposable Elements?
The karyotypes of the family Parodontidae consist of 2n = 54 chromosomes. The main chromosomal evolutionary changes of its species are attributed to chromosome rearrangements in repetitive DNA regions in their genomes. Physical mapping of the H1 and H4 histones was performed in 7 Parodontidae species to analyze the chromosome rearrangements involved in karyotype diversification in the group. In parallel, the observation of a partial sequence of an endogenous retrovirus (ERV) retrotransposon in the H1 histone sequence was evaluated to verify molecular co-option of the transposable elements (TEs) and to assess paralogous seq...
Source: Cytogenetic and Genome Research - June 15, 2019 Category: Genetics & Stem Cells Source Type: research

Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel < b > < i > SLCO2A1 < /i > < /b > Mutation and Imaging Findings
Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis, is a rare, multisystemic, autosomal recessive condition typically presenting with digital clubbing, osteoarthropathy, and various skin manifestations. Radiographs show distinctive periosteal reaction and thickening along the long bones. PHO is caused by homozygous mutations in theHPGD gene in chromosome 4q34.1 or theSLCO2A1 gene in 3q22.1q22.2. Here, we report on a 20-year-old male with enlarged and swollen joints with arthralgia, palmoplantar hyperhidrosis, and large hands and feet with marked digital clubbing. We also present radiographic, ...
Source: Cytogenetic and Genome Research - June 15, 2019 Category: Genetics & Stem Cells Source Type: research

Unexpected Coexistence of a Derivative t(21;21) and Complementary Mosaic r(21) in a Female with Multiple Miscarriages
The case presented here describes a female patient with recurrent miscarriages and a normal microarray analysis result. However, the coexistence of a robertsonian (21;21) translocation and complementary mosaic ring chromosome 21 was detected by karyotyping and FISH analysis. Partial trisomy 21 was found with QF-PCR and microarray analysis in one of the fetuses. The aim of this report was to emphasize the diagnostic importance of conventional cytogenetics.Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - June 13, 2019 Category: Genetics & Stem Cells Source Type: research

Karyotype Evolution and Distinct Evolutionary History of the W Chromosomes in Swallows (Aves, Passeriformes)
As in many other bird groups, data on karyotype organization and distribution of repetitive sequences are also lacking in species belonging to the family Hirundinidae. Thus, in the present study, we analyzed the karyotypes of 3 swallow species (Progne tapera,Progne chalybea, andPygochelidon cyanoleuca) by Giemsa and AgNOR staining, C-banding, and FISH with 11 microsatellite sequences. The diploid chromosome number was 2n = 76 in all 3 species, and NORs were observed in 2 chromosome pairs each. The microsatellite distribution pattern was similar in bothProgne species, whereasP. cyanoleuca presented a distinct organization. ...
Source: Cytogenetic and Genome Research - June 4, 2019 Category: Genetics & Stem Cells Source Type: research

DNA Methylation Status of SHOX-Flanking CpG Islands in Healthy Individuals and Short Stature Patients with Pseudoautosomal Copy Number Variations
In this study, we examined the DNA methylation status ofSHOX-flanking CpG islands in 50 healthy individuals and 10 ISS/LWD patients with pseudoautosomal CNVs. In silico analysis detected 3 CpG islands within the 20-kb region from the translation start site ofSHOX. Pyrosequencing and bisulfite sequencing of genomic DNA samples revealed that these CpG islands were barely methylated in peripheral blood cells and cultured chondrocytes of healthy individuals, as well as in peripheral blood cells of ISS/LWD patients with pseudoautosomal CNVs. These results, in conjunction with our previous findings, indicate that the DNA methyla...
Source: Cytogenetic and Genome Research - June 4, 2019 Category: Genetics & Stem Cells Source Type: research

Aberrant Meiotic Configurations Cause Sterility in Clone-Origin Triploid and Inter-Group Hybrid Males of the Dojo Loach, Misgurnus anguillicaudatus
In this study using FISH, we analyzed chromosome pairing in meiotic cells of clone-origin triploid and inter-group hybrid males to clarify the cytogenetic mechanisms underlying the male-specific sterility. We used a repetitive sequence probe to identify group B-derived chromosomes and a 5.8S + 28S rDNA probe to identify pairs of homologous chromosomes. We found that asynapsis and irregular synapsis occur in triploid and hybrid males containing 2 different genomes and that this may cause the formation of sterile germ cells. These results will help us to understand hybrid sterility from the viewpoint of synapsis behavior.Cyt...
Source: Cytogenetic and Genome Research - June 4, 2019 Category: Genetics & Stem Cells Source Type: research

A 46,XY Female with a 9p24.3p24.1 Deletion and a 8q24.11q24.3 Duplication: A Case Report and Review of the Literature
This study is aimed to better define the clinical history and prognosis of patients with this rare chromosomal aberration.Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - May 28, 2019 Category: Genetics & Stem Cells Source Type: research

Novel and Private < b > < i > EDA < /i > < /b > Mutations and Clinical Phenotypes of Korean Patients with X-Linked Hypohidrotic Ectodermal Dysplasia
In this study, we describe clinical and genetic characteristics of 10 Korean XLHED patients (9 males, 1 female) from 9 families. Nine out of the 10 patients manifested the cardinal triad of symptoms. Six patients had a positive family history, while 2 patients were brothers. The most common initial presentation was hypotrichosis or hypodontia, while 1 patient presented with recurrent high fever in early infancy. Sanger sequencing of theEDA gene was performed and revealed 9 different mutations. Three had been reported previously, and 6 were novel mutations. One female patient, carrying a previously reported missense mutatio...
Source: Cytogenetic and Genome Research - May 24, 2019 Category: Genetics & Stem Cells Source Type: research

Novel and Private EDA Mutations and Clinical Phenotypes of Korean Patients with X-Linked Hypohidrotic Ectodermal Dysplasia
In this study, we describe clinical and genetic characteristics of 10 Korean XLHED patients (9 males, 1 female) from 9 families. Nine out of the 10 patients manifested the cardinal triad of symptoms. Six patients had a positive family history, while 2 patients were brothers. The most common initial presentation was hypotrichosis or hypodontia, while 1 patient presented with recurrent high fever in early infancy. Sanger sequencing of theEDA gene was performed and revealed 9 different mutations. Three had been reported previously, and 6 were novel mutations. One female patient, carrying a previously reported missense mutatio...
Source: Cytogenetic and Genome Research - May 24, 2019 Category: Genetics & Stem Cells Source Type: research

Microarray Profiling of Circular RNA Identifies hsa_circ_0126991 as a Potential Risk Factor for Essential Hypertension
Essential hypertension (EH), a major cause of cardiovascular diseases, is an important public health issue. However, the molecular mechanisms involved in EH remain unknown. Circular RNA (circRNA) is a novel promising biomarker for the disease. The purpose of the present study was to determine the expression of circRNAs in the blood of EH patients and to evaluate the performance of circRNA for early diagnosis of EH. A total of 178 subjects were recruited in the case-control study. Initial screening was done by using the Agilent human circRNA microarray followed by qRT-PCR validation. Finally, miRNAs were combined with circR...
Source: Cytogenetic and Genome Research - May 21, 2019 Category: Genetics & Stem Cells Source Type: research

Cytogenetic Characterization of Two Metynnis Species (Characiformes, Serrasalmidae) Reveals B Chromosomes Restricted to the Females
Karyotypes and chromosomal characteristics with focus on B chromosomes of 2 species of the serrasalmid genusMetynnis, namelyM. lippincottianusand M. maculatus, were examined using conventional (C-banding) and molecular (FISH mapping of minor and major rDNAs andRex1,Rex3, andRex6 retrotransposable elements) protocols. Both species possessed a diploid chromosome number of 2n = 62 and karyotypes composed of 32 metacentric + 28 submetacentric + 2 subtelocentric and 32 metacentric + 26 submetacentric + 4 subtelocentric, respectively; one small B element was found in the female genome ofM. lippincottianus.C-banding revealed hete...
Source: Cytogenetic and Genome Research - May 13, 2019 Category: Genetics & Stem Cells Source Type: research

Cytogenetic Characterization of Two < b > < i > Metynnis < /i > < /b > Species (Characiformes, Serrasalmidae) Reveals B Chromosomes Restricted to the Females
Karyotypes and chromosomal characteristics with focus on B chromosomes of 2 species of the serrasalmid genusMetynnis, namelyM. lippincottianusand M. maculatus, were examined using conventional (C-banding) and molecular (FISH mapping of minor and major rDNAs andRex1,Rex3, andRex6 retrotransposable elements) protocols. Both species possessed a diploid chromosome number of 2n = 62 and karyotypes composed of 32 metacentric + 28 submetacentric + 2 subtelocentric and 32 metacentric + 26 submetacentric + 4 subtelocentric, respectively; one small B element was found in the female genome ofM. lippincottianus.C-banding revealed hete...
Source: Cytogenetic and Genome Research - May 10, 2019 Category: Genetics & Stem Cells Source Type: research

Intragenic Deletion in MACROD2: A Family with Complex Phenotypes Including Microcephaly, Intellectual Disability, Polydactyly, Renal and Pancreatic Malformations
Diagnosing a complex genetic syndrome and correctly assigning the concomitant phenotypic traits to a well-defined clinical form is often a medical challenge. In this work, we report the analysis of a family with complex phenotypes, including microcephaly, intellectual disability, dysmorphic features, and polydactyly in the proband, with the aim of adding new aspects for obtaining a clear diagnosis. We performed array-comparative genomic hybridization and quantitative reverse transcriptase PCR (qRT-PCR) analyses. We identified a deletion of chromosome 20p12.1 involving the macrodomain containing 2/mono-ADP ribosylhydrolase ...
Source: Cytogenetic and Genome Research - May 6, 2019 Category: Genetics & Stem Cells Source Type: research

Chromosomal Evolution in the < b > < i > Amolops mantzorum < /i > < /b > Species Group (Ranidae; Anura) Narrated by Repetitive DNAs
In an attempt to analyze the organization of repetitive DNAs in the amphibian genome, 7 microsatellite motifs and a 5S rDNA sequence were synthesized and mapped in the karyotypes of 5Amolops species. The results revealed nonrandom distribution of the microsatellite repeats, usually in the heterochromatic regions, as found in other organisms. These microsatellite repeats showed rapid changes amongAmolops species, documenting the recent evolutionary history within this lineage. In contrast, 5S rDNA was localized in chromosomes 5 of all species, suggesting that these chromosomes are homologous within the monophyletic clade. F...
Source: Cytogenetic and Genome Research - May 5, 2019 Category: Genetics & Stem Cells Source Type: research

Intragenic Deletion in < b > < i > MACROD2 < /i > < /b > : A Family with Complex Phenotypes Including Microcephaly, Intellectual Disability, Polydactyly, Renal and Pancreatic Malformations
Diagnosing a complex genetic syndrome and correctly assigning the concomitant phenotypic traits to a well-defined clinical form is often a medical challenge. In this work, we report the analysis of a family with complex phenotypes, including microcephaly, intellectual disability, dysmorphic features, and polydactyly in the proband, with the aim of adding new aspects for obtaining a clear diagnosis. We performed array-comparative genomic hybridization and quantitative reverse transcriptase PCR (qRT-PCR) analyses. We identified a deletion of chromosome 20p12.1 involving the macrodomain containing 2/mono-ADP ribosylhydrolase ...
Source: Cytogenetic and Genome Research - May 5, 2019 Category: Genetics & Stem Cells Source Type: research

Rare Concurrence of Two Congenital Disorders: Miller-Dieker Syndrome and T-Cell Lymphopenia
We report a 2.32-Mb microdeletion at chromosome 17p13.3p13.2 and T-cell lymphopenia in a 6-month-old male infant with MDS. This is, to our knowledge, the first description of these 2 conditions co-occurring in the same patient.Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - April 26, 2019 Category: Genetics & Stem Cells Source Type: research

Paracentric Inversions Differentiate the Conservative Karyotypes in Two Centropomus Species (Teleostei: Centropomidae)
Centropomusis the sole genus of the Centropomidae family (Teleostei), comprising 12 species widely distributed throughout the Western Atlantic and Eastern Pacific, with 6 of them occurring in the Western Atlantic in extensive sympatry. Their life history and phylogenetic relationships are well characterized; however, aspects of chromosomal evolution are still unknown. Here, cytogenetic analyses of 2Centropomus species of great economic value (C. undecimalis andC. mexicanus) were performed using conventional (Giemsa, Ag-NOR, and fluorochrome staining, C- and replication banding) and molecular (chromosomal mapping of 18S and...
Source: Cytogenetic and Genome Research - April 17, 2019 Category: Genetics & Stem Cells Source Type: research

Paracentric Inversions Differentiate the Conservative Karyotypes in Two < b > < i > Centropomus < /i > < /b > Species (Teleostei: Centropomidae)
Centropomusis the sole genus of the Centropomidae family (Teleostei), comprising 12 species widely distributed throughout the Western Atlantic and Eastern Pacific, with 6 of them occurring in the Western Atlantic in extensive sympatry. Their life history and phylogenetic relationships are well characterized; however, aspects of chromosomal evolution are still unknown. Here, cytogenetic analyses of 2Centropomus species of great economic value (C. undecimalis andC. mexicanus) were performed using conventional (Giemsa, Ag-NOR, and fluorochrome staining, C- and replication banding) and molecular (chromosomal mapping of 18S and...
Source: Cytogenetic and Genome Research - April 16, 2019 Category: Genetics & Stem Cells Source Type: research

Complete Paternal Uniparental Disomy of Chromosome 2 in an Asian Female Identified by Short Tandem Repeats and Whole Genome Sequencing
We examined a 3-person family (father, mother, daughter) first by using short tandem repeat markers, which revealed 4 markers, TPOX, D2S1338, D2S1772, and D2S441, on chromosome 2 that were not transmitted in a Mendelian style. We then performed whole genome sequencing (WGS) to determine the range of the UPD. Chromosome 2 in the daughter showed a complete paternal UPD. To the best of our knowledge, this is the 4th case of complete paternal UPD of chromosome 2 with no clinical phenotype. Our study suggests that WGS, when performed to enhance the accuracy and reliability of parentage testing, can provide a powerful method to ...
Source: Cytogenetic and Genome Research - April 16, 2019 Category: Genetics & Stem Cells Source Type: research

Molecular Characterization of a Familial 13.6-Mb 20p11.1p12.1 Duplication without Clinical Consequence
This report underlines the complexity of genetic counseling concerning rare chromosomal abnormalities, when little information is available either in the literature or in international cytogenetic databases.Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - April 16, 2019 Category: Genetics & Stem Cells Source Type: research

Chromosomal Evolution in the Amolops mantzorum Species Group (Ranidae; Anura) Narrated by Repetitive DNAs
In an attempt to analyze the organization of repetitive DNAs in the amphibian genome, 7 microsatellite motifs and a 5S rDNA sequence were synthesized and mapped in the karyotypes of 5Amolops species. The results revealed nonrandom distribution of the microsatellite repeats, usually in the heterochromatic regions, as found in other organisms. These microsatellite repeats showed rapid changes amongAmolops species, documenting the recent evolutionary history within this lineage. In contrast, 5S rDNA was localized in chromosomes 5 of all species, suggesting that these chromosomes are homologous within the monophyletic clade. F...
Source: Cytogenetic and Genome Research - April 16, 2019 Category: Genetics & Stem Cells Source Type: research

Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families
Hypohidrotic or anhidrotic ectodermal dysplasia (HED/EDA) is characterized by impaired development of the hair, teeth, or sweat glands. HED/EDA is inherited in an X-linked, autosomal dominant, or autosomal recessive pattern and caused by the pathogenic variants in 4 genes:EDA,EDAR,EDARADD, andWNT10A. The aim of the present study was to perform molecular screening of these 4 genes in a cohort of Turkish individuals diagnosed with HED/EDA. We screened for pathogenic variants ofWNT10A,EDA,EDAR, andEDARADD through Sanger sequencing. We further assessed the clinical profiles of the affected individuals in order to establish phe...
Source: Cytogenetic and Genome Research - April 16, 2019 Category: Genetics & Stem Cells Source Type: research

IKZF1 Gene Deletion in Pediatric Patients Diagnosed with Acute Lymphoblastic Leukemia in Mexico
This study was descriptive in nature; we calculated the frequency of theIKZF1gene deletion in a Mexican pediatric population with preB ALL as 20.6%.Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - April 16, 2019 Category: Genetics & Stem Cells Source Type: research

A New Complex Karyotype Involving a KMT2A-r Variant Three-Way Translocation in a Rare Clinical Presentation of a Pediatric Patient with Acute Myeloid Leukemia
We describe the clinical and molecular features of a child who presented with a large abdominal mass, AML, and a new CK, involving chromosomes 11, 16, and 19 leading to aKMT2A-MLLT1 fusion and 2 extra copies of theELL gene, thus resulting in the concurrent overexpression ofMLLT1andELL. Molecular cytogenetic studies defined the karyotype as 47,XY,der(11)t(11;16)(q23.3;p11.2),der(16)t(16;19)(p11.2;p13.3),der(19)t(11;19)(q23.3;p13.3),+der(19)t(16;19)(16pter#x2192;p11.2::19p13.3#x2192;19q11::19p11#x2192;19p13.3::16p11.2#x2192;16pter). Array CGH revealed a gain of 30.5 Mb in the 16p13.3p11.2 region and a gain of 18.1 Mb in the ...
Source: Cytogenetic and Genome Research - April 16, 2019 Category: Genetics & Stem Cells Source Type: research

High BrdU Sensitivity of Passeriformes Chromosomes: Conservation of BrdU-Sensitive Fragile Sites on Their Z Chromosomes during Evolution
Amongst 15 bird species, representative of 7 orders, recurrent breakages evocating the presence of fragile sites were detected in the chromosomes of the 5 species belonging to Passeriformes. These breaks appeared when 5-bromodeoxyuridine (BrdU) was added to the cell culture medium at a dose inefficient for inducing chromosome structure alterations in other birds and mammals. They involved, similarly in male and female, 3 loci on the Z chromosome of 3Turdus species (Turdidae). Labeling by BrdU antibody confirmed the correlation between BrdU incorporation into DNA and breakage, especially around and in the sites of breakage....
Source: Cytogenetic and Genome Research - April 16, 2019 Category: Genetics & Stem Cells Source Type: research