G-quadruplex resolution: From molecular mechanisms to physiological relevance
DNA Repair (Amst). 2023 Aug 3;130:103552. doi: 10.1016/j.dnarep.2023.103552. Online ahead of print.ABSTRACTGuanine-rich DNA sequences can fold into stable four-stranded structures called G-quadruplexes or G4s. Research in the past decade demonstrated that G4 structures are widespread in the genome and prevalent in regulatory regions of actively transcribed genes. The formation of G4s has been tightly linked to important biological processes including regulation of gene expression and genome maintenance. However, they can also pose a serious threat to genome integrity especially by impeding DNA replication, and G4-associate...
Source: DNA Repair - August 12, 2023 Category: Genetics & Stem Cells Authors: Koichi Sato Puck Knipscheer Source Type: research
Fanconi anemia and Aldehyde Degradation Deficiency Syndrome: Metabolism and DNA repair protect the genome and hematopoiesis from endogenous DNA damage
DNA Repair (Amst). 2023 Aug 1;130:103546. doi: 10.1016/j.dnarep.2023.103546. Online ahead of print.ABSTRACTWe have identified a set of Japanese children with hypoplastic anemia caused by combined defects in aldehyde degrading enzymes ADH5 and ALDH2. Their clinical characteristics overlap with a hereditary DNA repair disorder, Fanconi anemia. Our discovery of this disorder, termed Aldehyde Degradation Deficiency Syndrome (ADDS), reinforces the notion that endogenously generated aldehydes exert genotoxic effects; thus, the coupled actions of metabolism and DNA repair are required to maintain proper hematopoiesis and health.P...
Source: DNA Repair - August 12, 2023 Category: Genetics & Stem Cells Authors: Anfeng Mu Asuka Hira Minako Mori Yusuke Okamoto Minoru Takata Source Type: research
Holding it together: DNA end synapsis during non-homologous end joining
DNA Repair (Amst). 2023 Aug 8;130:103553. doi: 10.1016/j.dnarep.2023.103553. Online ahead of print.ABSTRACTDNA double strand breaks (DSBs) are common lesions whose misrepair are drivers of oncogenic transformations. The non-homologous end joining (NHEJ) pathway repairs the majority of these breaks in vertebrates by directly ligating DNA ends back together. Upon formation of a DSB, a multiprotein complex is assembled on DNA ends which tethers them together within a synaptic complex. Synapsis is a critical step of the NHEJ pathway as loss of synapsis can result in mispairing of DNA ends and chromosome translocations. As DNA ...
Source: DNA Repair - August 12, 2023 Category: Genetics & Stem Cells Authors: Joseph J Loparo Source Type: research
G-quadruplex resolution: From molecular mechanisms to physiological relevance
DNA Repair (Amst). 2023 Aug 3;130:103552. doi: 10.1016/j.dnarep.2023.103552. Online ahead of print.ABSTRACTGuanine-rich DNA sequences can fold into stable four-stranded structures called G-quadruplexes or G4s. Research in the past decade demonstrated that G4 structures are widespread in the genome and prevalent in regulatory regions of actively transcribed genes. The formation of G4s has been tightly linked to important biological processes including regulation of gene expression and genome maintenance. However, they can also pose a serious threat to genome integrity especially by impeding DNA replication, and G4-associate...
Source: DNA Repair - August 12, 2023 Category: Genetics & Stem Cells Authors: Koichi Sato Puck Knipscheer Source Type: research
Fanconi anemia and Aldehyde Degradation Deficiency Syndrome: Metabolism and DNA repair protect the genome and hematopoiesis from endogenous DNA damage
DNA Repair (Amst). 2023 Aug 1;130:103546. doi: 10.1016/j.dnarep.2023.103546. Online ahead of print.ABSTRACTWe have identified a set of Japanese children with hypoplastic anemia caused by combined defects in aldehyde degrading enzymes ADH5 and ALDH2. Their clinical characteristics overlap with a hereditary DNA repair disorder, Fanconi anemia. Our discovery of this disorder, termed Aldehyde Degradation Deficiency Syndrome (ADDS), reinforces the notion that endogenously generated aldehydes exert genotoxic effects; thus, the coupled actions of metabolism and DNA repair are required to maintain proper hematopoiesis and health.P...
Source: DNA Repair - August 12, 2023 Category: Genetics & Stem Cells Authors: Anfeng Mu Asuka Hira Minako Mori Yusuke Okamoto Minoru Takata Source Type: research
Holding it together: DNA end synapsis during non-homologous end joining
DNA Repair (Amst). 2023 Aug 8;130:103553. doi: 10.1016/j.dnarep.2023.103553. Online ahead of print.ABSTRACTDNA double strand breaks (DSBs) are common lesions whose misrepair are drivers of oncogenic transformations. The non-homologous end joining (NHEJ) pathway repairs the majority of these breaks in vertebrates by directly ligating DNA ends back together. Upon formation of a DSB, a multiprotein complex is assembled on DNA ends which tethers them together within a synaptic complex. Synapsis is a critical step of the NHEJ pathway as loss of synapsis can result in mispairing of DNA ends and chromosome translocations. As DNA ...
Source: DNA Repair - August 12, 2023 Category: Genetics & Stem Cells Authors: Joseph J Loparo Source Type: research
G-quadruplex resolution: From molecular mechanisms to physiological relevance
DNA Repair (Amst). 2023 Aug 3;130:103552. doi: 10.1016/j.dnarep.2023.103552. Online ahead of print.ABSTRACTGuanine-rich DNA sequences can fold into stable four-stranded structures called G-quadruplexes or G4s. Research in the past decade demonstrated that G4 structures are widespread in the genome and prevalent in regulatory regions of actively transcribed genes. The formation of G4s has been tightly linked to important biological processes including regulation of gene expression and genome maintenance. However, they can also pose a serious threat to genome integrity especially by impeding DNA replication, and G4-associate...
Source: DNA Repair - August 12, 2023 Category: Genetics & Stem Cells Authors: Koichi Sato Puck Knipscheer Source Type: research
Fanconi anemia and Aldehyde Degradation Deficiency Syndrome: Metabolism and DNA repair protect the genome and hematopoiesis from endogenous DNA damage
DNA Repair (Amst). 2023 Aug 1;130:103546. doi: 10.1016/j.dnarep.2023.103546. Online ahead of print.ABSTRACTWe have identified a set of Japanese children with hypoplastic anemia caused by combined defects in aldehyde degrading enzymes ADH5 and ALDH2. Their clinical characteristics overlap with a hereditary DNA repair disorder, Fanconi anemia. Our discovery of this disorder, termed Aldehyde Degradation Deficiency Syndrome (ADDS), reinforces the notion that endogenously generated aldehydes exert genotoxic effects; thus, the coupled actions of metabolism and DNA repair are required to maintain proper hematopoiesis and health.P...
Source: DNA Repair - August 12, 2023 Category: Genetics & Stem Cells Authors: Anfeng Mu Asuka Hira Minako Mori Yusuke Okamoto Minoru Takata Source Type: research
Holding it together: DNA end synapsis during non-homologous end joining
DNA Repair (Amst). 2023 Aug 8;130:103553. doi: 10.1016/j.dnarep.2023.103553. Online ahead of print.ABSTRACTDNA double strand breaks (DSBs) are common lesions whose misrepair are drivers of oncogenic transformations. The non-homologous end joining (NHEJ) pathway repairs the majority of these breaks in vertebrates by directly ligating DNA ends back together. Upon formation of a DSB, a multiprotein complex is assembled on DNA ends which tethers them together within a synaptic complex. Synapsis is a critical step of the NHEJ pathway as loss of synapsis can result in mispairing of DNA ends and chromosome translocations. As DNA ...
Source: DNA Repair - August 12, 2023 Category: Genetics & Stem Cells Authors: Joseph J Loparo Source Type: research
Fanconi anemia and Aldehyde Degradation Deficiency Syndrome: Metabolism and DNA repair protect the genome and hematopoiesis from endogenous DNA damage
DNA Repair (Amst). 2023 Aug 1;130:103546. doi: 10.1016/j.dnarep.2023.103546. Online ahead of print.ABSTRACTWe have identified a set of Japanese children with hypoplastic anemia caused by combined defects in aldehyde degrading enzymes ADH5 and ALDH2. Their clinical characteristics overlap with a hereditary DNA repair disorder, Fanconi anemia. Our discovery of this disorder, termed Aldehyde Degradation Deficiency Syndrome (ADDS), reinforces the notion that endogenously generated aldehydes exert genotoxic effects; thus, the coupled actions of metabolism and DNA repair are required to maintain proper hematopoiesis and health.P...
Source: DNA Repair - August 12, 2023 Category: Genetics & Stem Cells Authors: Anfeng Mu Asuka Hira Minako Mori Yusuke Okamoto Minoru Takata Source Type: research
G-quadruplex resolution: From molecular mechanisms to physiological relevance
DNA Repair (Amst). 2023 Aug 3;130:103552. doi: 10.1016/j.dnarep.2023.103552. Online ahead of print.ABSTRACTGuanine-rich DNA sequences can fold into stable four-stranded structures called G-quadruplexes or G4s. Research in the past decade demonstrated that G4 structures are widespread in the genome and prevalent in regulatory regions of actively transcribed genes. The formation of G4s has been tightly linked to important biological processes including regulation of gene expression and genome maintenance. However, they can also pose a serious threat to genome integrity especially by impeding DNA replication, and G4-associate...
Source: DNA Repair - August 12, 2023 Category: Genetics & Stem Cells Authors: Koichi Sato Puck Knipscheer Source Type: research
Novel insights into bulky DNA damage formation and nucleotide excision repair from high-resolution genomics
DNA Repair (Amst). 2023 Aug 3;130:103549. doi: 10.1016/j.dnarep.2023.103549. Online ahead of print.ABSTRACTDNA damages compromise cell function and fate. Cells of all organisms activate a global DNA damage response that includes a signaling stress response, activation of checkpoints, and recruitment of repair enzymes. Especially deleterious are bulky, helix-distorting damages that block transcription and replication. Due to their miscoding nature, these damages lead to mutations and cancer. In human cells, bulky DNA damages are repaired by nucleotide excision repair (NER). To date, the basic mechanism of NER in naked DNA i...
Source: DNA Repair - August 11, 2023 Category: Genetics & Stem Cells Authors: Yuval Cohen Sheera Adar Source Type: research
Structure and mechanism in non-homologous end joining
DNA Repair (Amst). 2023 Jul 29;130:103547. doi: 10.1016/j.dnarep.2023.103547. Online ahead of print.ABSTRACTDNA double-stranded breaks (DSBs) are a particularly challenging form of DNA damage to repair because the damaged DNA must not only undergo the chemical reactions responsible for returning it to its original state, but, additionally, the two free ends can become physically separated in the nucleus and must be bridged prior to repair. In nonhomologous end joining (NHEJ), one of the major pathways of DSB repair, repair is carried out by a number of repair factors capable of binding to and directly joining DNA ends. It ...
Source: DNA Repair - August 9, 2023 Category: Genetics & Stem Cells Authors: Alex Vogt Yuan He Source Type: research
Structure and mechanism in non-homologous end joining
DNA Repair (Amst). 2023 Jul 29;130:103547. doi: 10.1016/j.dnarep.2023.103547. Online ahead of print.ABSTRACTDNA double-stranded breaks (DSBs) are a particularly challenging form of DNA damage to repair because the damaged DNA must not only undergo the chemical reactions responsible for returning it to its original state, but, additionally, the two free ends can become physically separated in the nucleus and must be bridged prior to repair. In nonhomologous end joining (NHEJ), one of the major pathways of DSB repair, repair is carried out by a number of repair factors capable of binding to and directly joining DNA ends. It ...
Source: DNA Repair - August 9, 2023 Category: Genetics & Stem Cells Authors: Alex Vogt Yuan He Source Type: research
Structure and mechanism in non-homologous end joining
DNA Repair (Amst). 2023 Jul 29;130:103547. doi: 10.1016/j.dnarep.2023.103547. Online ahead of print.ABSTRACTDNA double-stranded breaks (DSBs) are a particularly challenging form of DNA damage to repair because the damaged DNA must not only undergo the chemical reactions responsible for returning it to its original state, but, additionally, the two free ends can become physically separated in the nucleus and must be bridged prior to repair. In nonhomologous end joining (NHEJ), one of the major pathways of DSB repair, repair is carried out by a number of repair factors capable of binding to and directly joining DNA ends. It ...
Source: DNA Repair - August 9, 2023 Category: Genetics & Stem Cells Authors: Alex Vogt Yuan He Source Type: research
