B-Cell Acute Lymphoblastic Leukemia with iAMP21 in a Patient with Constitutional Ring Chromosome 21
Pediatric B-cell acute lymphoblastic leukemia (B-ALL) is associated with various specific cytogenetic and molecular markers that significantly influence treatment and prognosis. Intrachromosomal amplification of chromosome 21 (iAMP21) defines a rare distinct cytogenetic subgroup of childhood B-ALL, which is characterized by amplification of region 21q22.12 comprising theRUNX1 gene. Constitutional structural chromosomal abnormalities involving chromosome 21 confer an increased risk for B-ALL with iAMP21. Here, we report the development of B-ALL with iAMP21 in a 9-year-old child with a constitutional ring chromosome 21, r(21...
Source: Cytogenetic and Genome Research - December 9, 2022 Category: Genetics & Stem Cells Source Type: research
Postzygotic Breakages of Dicentric Chromosomes: A Rare Mechanism of Terminal Deletions
We report a patient presenting with neurodevelopmental disorder, cleft palate, micrognathia, relatively mild microcephaly ( −2 SD), and ventricular septal defect for whom a 9p terminal deletion was identified by aCGH at birth. The analyses of the samples taken prenatally showed that this terminal deletion resulted from the recombination of a dicentric chromosome which was transmitted to the zygote. Indeed, an inverted duplication with terminal deletion of the short arm of chromosome 9 [invdupdel(9p)] was found in a mosaic state in the placenta. To our knowledge, it is the first reported patient with a terminal deletion p...
Source: Cytogenetic and Genome Research - December 8, 2022 Category: Genetics & Stem Cells Source Type: research
Ionizing Radiation-Induced DNA Damage Response in Primary Melanocytes and Keratinocytes of Human Skin
In this study, a comparative analysis was performed on γ-ray-induced DNA damage and repair in primary human melanocytes and keratinocytes isolated from 3 donors. Our study demonstrates a modest interindividual variability in both melanocytes and keratinocytes in terms of both spontaneous and ionizing radiation (IR)-induced 53BP1 foci formation and pers istence. Melanocytes, in general, showed a slightly elevated (1.66–2.79 folds more) 53BP1 foci induction relative to keratinocytes after exposure to different doses of γ-rays (0.1–2.5 Gy) radiation. To verify the influence of ATM kinase on IR-induced 53BP1 foci formati...
Source: Cytogenetic and Genome Research - December 5, 2022 Category: Genetics & Stem Cells Source Type: research
Comparative Studies of Karyotypes in the Cervidae Family
The family Cervidae is the second most diverse family in the infraorder Pecora and is characterized by a striking variability in the diploid chromosome numbers among species, ranging from 6 to 70. Chromosomal rearrangements in Cervidae have been studied in detail by chromosome painting. There are many comparative cytogenetic data for both subfamilies (Cervinae and Capreolinae) based on homologies with chromosomes of cattle and Chinese muntjac. Previously it was found that interchromosomal rearrangements are the major type of rearrangements occurring in the Cervidae family. Here, we build a detailed chromosome map of a fema...
Source: Cytogenetic and Genome Research - December 2, 2022 Category: Genetics & Stem Cells Source Type: research
Tracking Chromosomal Origins in the Northern Italy System of Metacentric Races of the House Mouse
The Western European house mouse is chromosomally diverse, with diploid karyotypes ranging from the standard 40 telocentric chromosomes down to 22 chromosomes. Karyotypes are modified through Robertsonian (Rb) fusion of 2 telocentrics into a single metacentric, occurring repeatedly with fixation, and whole-arm reciprocal translocations (WARTs) generating additional novel karyotypes. Over 100 metacentric populations (chromosomal races) have been identified, geographically clustered into “systems.” Chromosomal races within systems often hybridise, and new races may emerge through this hybridisation (“zonal raciation”...
Source: Cytogenetic and Genome Research - December 1, 2022 Category: Genetics & Stem Cells Source Type: research
scRepli-Seq: A Powerful Tool to Study Replication Timing and Genome Instability
Advances in “omics” technology have made it possible to study a wide range of cellular phenomena at the single-cell level. Recently, we developed single-cell DNA replication sequencing (scRepli-seq) that measures replication timing (RT) by copy number differences between replicated and unreplicated genomic DNA in replicating single mammalian cells. This method has been used to reveal previously unrecognized static and dynamic natures of several hundred kilobases to a few megabases-scale chromosomal units called RT domains. Because RT domains are highly correlated to A/B compartments detected by Hi-C, scRepli-seq data c...
Source: Cytogenetic and Genome Research - December 1, 2022 Category: Genetics & Stem Cells Source Type: research
The New Mitogenome of < b > < i > Erpornis zantholeuca < /i > < /b > (Aves: Passeriformes): Sequence, Structure, and Phylogenetic Analyses
White-bellied Erpornis (Erpornis zantholeuca) is a group of birds in the order Passeriformes, but its taxonomic status remains controversial. To understand the phylogenetic position ofE. zantholeuca and phylogenetic relations within this family, we sequenced the complete mitochondrial genome ofE. zantholeuca, which was 16,902 bp in length, containing 13 protein-coding genes (PCGs), 22 transfer RNA (tRNA) genes, 2 ribosomal RNA (rRNA) genes, and a control region. The nucleotide composition of the whole genome was 30.10% A, 30.48% C, 15.14% G, and 24.28% T and showed an elevated AT content (54.38%). All genes were encoded on...
Source: Cytogenetic and Genome Research - November 29, 2022 Category: Genetics & Stem Cells Source Type: research
Comparative Somatic Variant Analysis of a Rare Case with Concurrent Oral Leukoplakia and Oral Submucosal Fibrosis
Oral leukoplakia (OL) and oral submucosal fibrosis (OSMF) are precancerous conditions with common etiologies but with different risks for oral cancer (OC) progression. In rare cases, both conditions occur in the same patient and provide an opportunity for understanding the common and distinctive variants upon exposure of genetically identical normal cells to the same carcinogen(s). We performed exome sequencing of a patient with OL (hyperplasia, but no dysplasia) and OSMF (grade II) in the opposite cheeks using blood DNA as the reference genome. The overall somatic variant burden was higher in OSMF than OL, but opposite in...
Source: Cytogenetic and Genome Research - October 21, 2022 Category: Genetics & Stem Cells Source Type: research
Differences in Variants in the Structural Domain of < b > < i > BCR-ABL1 < /i > < /b > Kinase between Chinese Han and Minority Patients with Chronic Myeloid Leukemia by Sanger Sequencing and Next-Generation Sequencing
In conclusion, there is no significant difference inBCR-ABL1 KD mutations between Han and ethnic minority patients. NGS has a higher mutation detection rate than SS, and can detect compound variants and genes with lower mutation frequency that are not detected by SS.Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - September 27, 2022 Category: Genetics & Stem Cells Source Type: research
Interaction between m6A and ncRNAs and Its Association with Diseases
Noncoding RNAs (ncRNA) are a kind of endogenous RNA that regulate many vital bioprocesses with limited ability to encode polypeptides. Most of them are involved in transcriptional and posttranscriptional regulations, thus showing some biological effects. N6-methyladenosine (m6A) RNA modification is a reversible modification that adjusts RNA ’s functions and stability. The enzymes that regulate m6A can be divided into “writers,” “readers,” and “erasers.” Mechanically, m6A modification of microRNA is mainly identified by DGVR8, participating in the processing of primary microRNAs, while m6A modification on lo...
Source: Cytogenetic and Genome Research - September 19, 2022 Category: Genetics & Stem Cells Source Type: research
Cytogenetic Mapping of Cattle BAC Probes for the Hypothetical Ancestral Karyotype of the Family Cervidae
We present a karyotypic map of the 108 new markers, which will be of great importance for future karyotypic evolution studies in cervids and, consequently, help in their conservation and taxonomy resolution.Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - August 18, 2022 Category: Genetics & Stem Cells Source Type: research
Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness
Interstitial 2q24.2q24.3 microdeletions are rare cytogenetic aberrations associated with heterogeneous clinical features depending on the size of the deletion. Here, we describe 2 patients with overlapping de novo 2q24.2q24.3 deletions, characterized by array-CGH. This is the smallest 2q24.2q24.3 region of overlap described in the literature encompassing only 9 genes (SLC4A10,DPP4,GCG,FAP,IFIH1,GCA,KCNH7,FIGN, GRB14). We focused our attention onSLC4A10, DPP4, andKCNH7, genes associated with neurological features. Our patients presented similar features: intellectual disability, developmental and language delay, hypotonia, ...
Source: Cytogenetic and Genome Research - July 27, 2022 Category: Genetics & Stem Cells Source Type: research
Genomic Features of Interstitial Deletions of Chromosome 9q in Acute Myeloid Leukemia
Interstitial deletion in the long arm of chromosome 9 [del(9q)] is a fairly common cytogenetic finding associated with acute myeloid leukemia (AML), seen in approximately 2 –5% of AML patients. However, the genomic features of the deletion remain largely unknown. Using chromosome analysis, single nucleotide polymorphism microarray, and next-generation sequencing, we characterized del(9q)s and other genomic alterations in 9 AML patients. We found several distinct fea tures of the del(9q)s. The proximal breakpoints of the deletions are clustered within a 2.5-Mb region (chr9: 68,513,625–70,984,372; GRCh37) enriched with s...
Source: Cytogenetic and Genome Research - June 8, 2022 Category: Genetics & Stem Cells Source Type: research
Cohesin < b > < i > RAD21 < /i > < /b > Gene Promoter Methylation Correlated with Better Prognosis in Breast Cancer Patients
RAD21 plays multiple roles in numerous cancers. In breast cancer (BC), a high level of RAD21 correlates with poor disease outcomes and resistance to chemotherapy. However, data regardingRAD21 promoter methylation in BC tissue and its correlation with clinical outcomes in patients with BC remain limited. Here, we investigated the clinicopathological features associated with the methylation status ofRAD21 in BC to figure out its possible role in pathogenesis and the formation of breast carcinogenesis. The methylation status of theRAD21 gene was significantly associated with better clinical outcomes in patients with BC.Cytoge...
Source: Cytogenetic and Genome Research - June 2, 2022 Category: Genetics & Stem Cells Source Type: research
Skewed X-Chromosome Inactivation as a Possible Marker of X-Linked CNV in Women with Pregnancy Loss
Skewed X-chromosome inactivation (sXCI) can be a marker of lethal genetic variants on the X chromosome in a woman since sXCI modifies the pathological phenotype. The aim of this study was to search for CNVs in women with miscarriages and sXCI. XCI was assayed using the classical method based on the amplification of highly polymorphic exon 1 of the androgen receptor (AR) gene. The XCI status was analysed in 313 women with pregnancy loss and in 87 spontaneously aborted embryos with 46,XX karyotype, as well as in control groups of 135 women without pregnancy loss and 64 embryos with 46,XX karyotype from induced abortions in w...
Source: Cytogenetic and Genome Research - May 30, 2022 Category: Genetics & Stem Cells Source Type: research
