AB064. TRIM29: a novel gene involved in DNA repair mechanisms

Wikiniyadhanee, Rakkreat; Stitchantrakul, Wasana; Chitphuk, Sermsiri; Dejsuphong, Donniphat

doi:10.21037/atm.2017.s064

Cited by 2 publications

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“…Both RAG and TRIM29 loci were identified as AO-hastening modifiers. TRIM29 encodes for tripartite motif protein 29, which is implicated in mismatch repair and double strand breaks pathways [18,19]. TRIM29 is involved both upstream and downstream of these pathways, in the regulation of DNA repair proteins into chromatin by mediating the interaction between them.…”

Section: Aging Discussionmentioning

confidence: 99%

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

Akçimen

Martins

Liao

et al. 2020

Aging

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Machado-Joseph disease (MJD/SCA3) is the most common form of dominantly inherited ataxia worldwide. The disorder is caused by an expanded CAG repeat in the ATXN3 gene. Past studies have revealed that the length of the expansion partly explains the disease age at onset (AO) variability of MJD, which is confirmed in this study (Pearson's correlation coefficient R 2 = 0.62). Using a total of 786 MJD patients from five different geographical origins, a genome-wide association study (GWAS) was conducted to identify additional AO modifying factors that could explain some of the residual AO variability. We identified nine suggestively associated loci (P < 1 × 10 −5). These loci were enriched for genes involved in vesicle transport, olfactory signaling, and synaptic pathways. Furthermore, associations between AO and the TRIM29 and RAG genes suggests that DNA repair mechanisms might be implicated in MJD pathogenesis. Our study demonstrates the existence of several additional genetic factors, along with CAG expansion, that may lead to a better understanding of the genotype-phenotype correlation in MJD.

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Section: Aging Discussionmentioning

confidence: 99%

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

Akçimen

Martins

Liao

et al. 2020

Aging

View full text Add to dashboard Cite

show abstract

“…Both RAG and TRIM29 loci were identified as AO-hastening modifiers. TRIM29 encodes for tripartite motif protein 29, which is implicated in mismatch repair and double strand breaks pathways [31,32]. TRIM29 is involved both upstream and downstream of these pathways, in the regulation of DNA repair proteins into chromatin by mediating the interaction between them.…”

Section: Discussionmentioning

confidence: 99%

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

Akçimen

Martins

Liao

et al. 2019

Preprint

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34Machado-Joseph disease (MJD/SCA3) is the most common form of dominantly inherited ataxia 35 worldwide. The disorder is caused by an expanded CAG repeat in the ATXN3 gene. Past studies 36 have revealed that the length of the expansion partly explains the disease age at onset (AO) 37 variability of MJD, which is confirmed in this study. Using a total of 786 MJD patients from five 38 different geographical origins, a genome-wide association study (GWAS) was conducted to 39 identify additional AO modifying factors that could explain some of the residual AO variability. 40 We identified nine suggestively associated loci (P < 1 × 10 −5 ). These loci were enriched for genes 41 involved in vesicle transport, olfactory signaling, and synaptic pathways. Furthermore, 42 associations between AO and the TRIM29 and RAG genes suggests that DNA repair mechanisms 43 might be implicated in MJD pathogenesis. Our study demonstrates the existence of several 44 additional genetic factors, along with CAG expansion, that may lead to a better understanding of 45 the genotype-phenotype correlation in MJD. 46 Keywords 47 65 collaborative studies are required to identify genetic modifiers in MJD, as well as replicate the 66 findings of such studies [8]. 67 Previously, Genetic Modifiers of Huntington's Disease (GeM-HD) Consortium carried out a GWA 68 approach of HD individuals to reveal genetic modifiers of AO in HD [9,10]. A total of eleven [9]69 and fourteen loci [10] were found to be associated with residual age at HD onset. In the present 70

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AB064. TRIM29: a novel gene involved in DNA repair mechanisms

Cited by 2 publications

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Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

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