Exploratory Investigation on Functional Significance of ETS2 and SIM2 Genes in Down Syndrome

Exploratory Investigation on Functional Significance of ETS2 and SIM2 Genes in Down Syndrome

Trisomy of the 21st chromosome leads to an over dosage of several regulatory genes in Down syndrome (DS). Though allelic and genotypic combinations formed between genes are interesting, till date, this particular area has never been explored in DS. In the present investigation four SNPs in two trans...

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Main Authors: Chatterjee, Arpita, Dutta, Samikshan, Sinha, Swagata, Mukhopadhyay, Kanchan
Format: Online
Language:English
Published: IOS Press 2011
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3826905/
id pubmed-3826905
recordtype oai_dc
spelling pubmed-38269052013-12-01 Exploratory Investigation on Functional Significance of ETS2 and SIM2 Genes in Down Syndrome Chatterjee, Arpita Dutta, Samikshan Sinha, Swagata Mukhopadhyay, Kanchan Other Trisomy of the 21st chromosome leads to an over dosage of several regulatory genes in Down syndrome (DS). Though allelic and genotypic combinations formed between genes are interesting, till date, this particular area has never been explored in DS. In the present investigation four SNPs in two transcription factors, Single minded 2 (SIM2) and V-ets erythroblastosis virus E26 oncogene homolog2 (ETS2), located in the 21st chromosome were genotyped to understand their role in DS. Genomic DNA of eastern Indian probands with DS (N = 132), their parents (N = 209) and ethnically matched controls (N = 149) was subjected to PCR-based analyses of functionally important SNPs followed by statistical analyses. ETS2 rs461155 showed high heterozygosity in DS. Significantly lower frequency of SIM2 C-G haplotype (rs2073601-rs2073416) was noticed in individuals with DS (P value = 0.01669) and their fathers (P value = 0.01185). Significantly lower frequency of the A-C-C-G with higher frequency of A-C-A-G haplotypes was also noticed in subjects with DS (P value = 0.02089 and 0.00588 respectively). Data obtained indicate that the rs2073601 ‘A’ allele, responsible for nonsynonymous substitution of leucine to methionine, may have some role in DS in this population. IOS Press 2011 2011-11-01 /pmc/articles/PMC3826905/ /pubmed/22048266 http://dx.doi.org/10.3233/DMA-2011-0825 Text en Copyright © 2011 Hindawi Publishing Corporation.
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author Chatterjee, Arpita
Dutta, Samikshan
Sinha, Swagata
Mukhopadhyay, Kanchan
spellingShingle Chatterjee, Arpita
Dutta, Samikshan
Sinha, Swagata
Mukhopadhyay, Kanchan
Exploratory Investigation on Functional Significance of ETS2 and SIM2 Genes in Down Syndrome
author_facet Chatterjee, Arpita
Dutta, Samikshan
Sinha, Swagata
Mukhopadhyay, Kanchan
author_sort Chatterjee, Arpita
title Exploratory Investigation on Functional Significance of ETS2 and SIM2 Genes in Down Syndrome
title_short Exploratory Investigation on Functional Significance of ETS2 and SIM2 Genes in Down Syndrome
title_full Exploratory Investigation on Functional Significance of ETS2 and SIM2 Genes in Down Syndrome
title_fullStr Exploratory Investigation on Functional Significance of ETS2 and SIM2 Genes in Down Syndrome
title_full_unstemmed Exploratory Investigation on Functional Significance of ETS2 and SIM2 Genes in Down Syndrome
title_sort exploratory investigation on functional significance of ets2 and sim2 genes in down syndrome
description Trisomy of the 21st chromosome leads to an over dosage of several regulatory genes in Down syndrome (DS). Though allelic and genotypic combinations formed between genes are interesting, till date, this particular area has never been explored in DS. In the present investigation four SNPs in two transcription factors, Single minded 2 (SIM2) and V-ets erythroblastosis virus E26 oncogene homolog2 (ETS2), located in the 21st chromosome were genotyped to understand their role in DS. Genomic DNA of eastern Indian probands with DS (N = 132), their parents (N = 209) and ethnically matched controls (N = 149) was subjected to PCR-based analyses of functionally important SNPs followed by statistical analyses. ETS2 rs461155 showed high heterozygosity in DS. Significantly lower frequency of SIM2 C-G haplotype (rs2073601-rs2073416) was noticed in individuals with DS (P value = 0.01669) and their fathers (P value = 0.01185). Significantly lower frequency of the A-C-C-G with higher frequency of A-C-A-G haplotypes was also noticed in subjects with DS (P value = 0.02089 and 0.00588 respectively). Data obtained indicate that the rs2073601 ‘A’ allele, responsible for nonsynonymous substitution of leucine to methionine, may have some role in DS in this population.
publisher IOS Press
publishDate 2011
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3826905/
_version_ 1612026383014297600

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