scholarly journals Allele and Genotype Distributions of DNA Repair Gene Polymorphisms in South Indian Healthy Population

2014 ◽  
Vol 6 ◽  
pp. BIC.S19681 ◽  
Author(s):  
Katiboina Srinivasa Rao ◽  
Abialbon Paul ◽  
Annan Sudarsan Arun Kumar ◽  
Gurusamy Umamaheswaran ◽  
Biswajit Dubashi ◽  
...  
Keyword(s):  
Dna Repair ◽  
Xeroderma Pigmentosum ◽  
Excision Repair ◽  
Association Studies ◽  
Healthy Population ◽  
Repair Gene ◽  
South Indian ◽  
Dna Repair Gene ◽  
Genes Encoding ◽  
Hapmap Populations

Various DNA repair pathways protect the structural and chemical integrity of the human genome from environmental and endogenous threats. Polymorphisms of genes encoding the proteins involved in DNA repair have been found to be associated with cancer risk and chemotherapeutic response. In this study, we aim to establish the normative frequencies of DNA repair genes in South Indian healthy population and compare with HapMap populations. Genotyping was done on 128 healthy volunteers from South India, and the allele and genotype distributions were established. The minor allele frequency of Xeroderma pigmentosum group A ( XPA) G23A, Excision repair cross-complementing 2 ( ERCC2)/Xeroderma pigmentosum group D ( XPD) Lys751Gln, Xeroderma pigmentosum group G ( XPG) His46His, XPG Asp1104His, and X-ray repair cross-complementing group 1 ( XRCC1) Arg399Gln polymorphisms were 49.2%, 36.3%, 48.0%, 23.0%, and 34.0% respectively. Ethnic variations were observed in the frequency distribution of these polymorphisms between the South Indians and other HapMap populations. The present work forms the groundwork for cancer association studies and biomarker identification for treatment response and prognosis.

scholarly journals DNA Repair Gene Polymorphisms and Chromosomal Aberrations in Exposed Populations

2021 ◽  
Vol 12 ◽  
Author(s):  
Yasmeen Niazi ◽  
Hauke Thomsen ◽  
Bozena Smolkova ◽  
Ludmila Vodickova ◽  
Sona Vodenkova ◽  
...  
Keyword(s):  
Dna Repair ◽  
Chromosomal Aberrations ◽  
Gene Polymorphisms ◽  
Excision Repair ◽  
Association Studies ◽  
Peripheral Blood Lymphocytes ◽  
Mismatch Repair Gene ◽  
Genome Wide Association Studies ◽  
Repair Gene ◽  
Dna Repair Gene

DNA damage and unrepaired or insufficiently repaired DNA double-strand breaks as well as telomere shortening contribute to the formation of structural chromosomal aberrations (CAs). Non-specific CAs have been used in the monitoring of individuals exposed to potential carcinogenic chemicals and radiation. The frequency of CAs in peripheral blood lymphocytes (PBLs) has been associated with cancer risk and the association has also been found in incident cancer patients. CAs include chromosome-type aberrations (CSAs) and chromatid-type aberrations (CTAs) and their sum CAtot. In the present study, we used data from our published genome-wide association studies (GWASs) and extracted the results for 153 DNA repair genes for 607 persons who had occupational exposure to diverse harmful substances/radiation and/or personal exposure to tobacco smoking. The analyses were conducted using linear and logistic regression models to study the association of DNA repair gene polymorphisms with CAs. Considering an arbitrary cutoff level of 5 × 10–3, 14 loci passed the threshold, and included 7 repair pathways for CTA, 4 for CSA, and 3 for CAtot; 10 SNPs were eQTLs influencing the expression of the target repair gene. For the base excision repair pathway, the implicated genes PARP1 and PARP2 encode poly(ADP-ribosyl) transferases with multiple regulatory functions. PARP1 and PARP2 have an important role in maintaining genome stability through diverse mechanisms. Other candidate genes with known roles for CSAs included GTF2H (general transcription factor IIH subunits 4 and 5), Fanconi anemia pathway genes, and PMS2, a mismatch repair gene. The present results suggest pathways with mechanistic rationale for the formation of CAs and emphasize the need to further develop techniques for measuring individual sensitivity to genotoxic exposure.

scholarly journals Molecular cloning and chromosomal localization of DNA sequences associated with a human DNA repair gene.

1985 ◽  
Vol 5 (2) ◽  
pp. 398-405 ◽  
Author(s):  
J S Rubin ◽  
V R Prideaux ◽  
H F Willard ◽  
A M Dulhanty ◽  
G F Whitmore ◽  
...  
Keyword(s):  
Dna Repair ◽  
Dna Sequences ◽  
Chromosomal Localization ◽  
Excision Repair ◽  
Repair Process ◽  
Human Cells ◽  
Gene Products ◽  
Repair Gene ◽  
Human Dna ◽  
Dna Repair Gene

The genes and gene products involved in the mammalian DNA repair processes have yet to be identified. Toward this end we made use of a number of DNA repair-proficient transformants that were generated after transfection of DNA from repair-proficient human cells into a mutant hamster line that is defective in the initial incision step of the excision repair process. In this report, biochemical evidence is presented that demonstrates that these transformants are repair proficient. In addition, we describe the molecular identification and cloning of unique DNA sequences closely associated with the transfected human DNA repair gene and demonstrate the presence of homologous DNA sequences in human cells and in the repair-proficient DNA transformants. The chromosomal location of these sequences was determined by using a panel of rodent-human somatic cell hybrids. Both unique DNA sequences were found to be on human chromosome 19.

scholarly journals Are SNP-Smoking Association Studies Needed in Controls? DNA Repair Gene Polymorphisms and Smoking Intensity

PLoS ONE ◽  
2015 ◽  
Vol 10 (5) ◽  
pp. e0129374 ◽  
Author(s):  
Zoraida Verde ◽  
Luis Reinoso ◽  
Luis Miguel Chicharro ◽  
Pilar Resano ◽  
Ignacio Sánchez-Hernández ◽  
...  
Keyword(s):  
Dna Repair ◽  
Gene Polymorphisms ◽  
Association Studies ◽  
Repair Gene ◽  
Smoking Intensity ◽  
Dna Repair Gene

scholarly journals DNA Repair Gene (XRCC1) Polymorphism (Arg399Gln) Associated with Schizophrenia in South Indian Population: A Genotypic and Molecular Dynamics Study

PLoS ONE ◽  
2016 ◽  
Vol 11 (1) ◽  
pp. e0147348 ◽  
Author(s):  
S. P. Sujitha ◽  
D. Thirumal Kumar ◽  
C. George Priya Doss ◽  
K. Aavula ◽  
R. Ramesh ◽  
...  
Keyword(s):  
Molecular Dynamics ◽  
Dna Repair ◽  
Indian Population ◽  
South Indian Population ◽  
Repair Gene ◽  
South Indian ◽  
Dna Repair Gene

scholarly journals A yeast DNA repair gene partially complements defective excision repair in mammalian cells.

1988 ◽  
Vol 7 (10) ◽  
pp. 3245-3253 ◽  
Author(s):  
C. Lambert ◽  
L. B. Couto ◽  
W. A. Weiss ◽  
R. A. Schultz ◽  
L. H. Thompson ◽  
...  
Keyword(s):  
Dna Repair ◽  
Mammalian Cells ◽  
Excision Repair ◽  
Repair Gene ◽  
Dna Repair Gene

scholarly journals RAD25 (SSL2), the yeast homolog of the human xeroderma pigmentosum group B DNA repair gene, is essential for viability.

1992 ◽  
Vol 89 (23) ◽  
pp. 11416-11420 ◽  
Author(s):  
E. Park ◽  
S. N. Guzder ◽  
M. H. Koken ◽  
I. Jaspers-Dekker ◽  
G. Weeda ◽  
...  
Keyword(s):  
Dna Repair ◽  
Xeroderma Pigmentosum ◽  
Repair Gene ◽  
Dna Repair Gene ◽  
Group B ◽  
Yeast Homolog

scholarly journals Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients

2005 ◽  
Vol 27 (1) ◽  
pp. 84-94 ◽  
Author(s):  
Sikandar G. Khan ◽  
Kyu-Seon Oh ◽  
Tala Shahlavi ◽  
Takahiro Ueda ◽  
David B. Busch ◽  
...  
Keyword(s):  
Dna Repair ◽  
Xeroderma Pigmentosum ◽  
Mrna Levels ◽  
Repair Gene ◽  
Clinically Normal ◽  
Dna Repair Gene ◽  
Gene Mrna
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