Ethnicity-specific distribution of TRPM8 gene variants in Eurasian populations: signs of selection

The TRPM8 gene encodes the ion channel, which is a cold receptor in afferent neurons of the mammalian somatosensory system. We studied the frequency of haplotype distribution from six SNPs in the TRPM8 gene in Eurasian human populations, including Russians, Kazakhs and Chukchi. Four of the six SNPs...

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Main Authors: Potapova, T.A., Romashchenko, A.G., Yudin, N.S., Voevoda, M.I.
Format: Text
Language:English
Published: The Federal Research Center Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences 2020
Subjects:
Online Access:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7892495/
http://www.ncbi.nlm.nih.gov/pubmed/33659811
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spelling ftpubmed:oai:pubmedcentral.nih.gov:7892495 2023-05-15T15:54:29+02:00 Ethnicity-specific distribution of TRPM8 gene variants in Eurasian populations: signs of selection Potapova, T.A. Romashchenko, A.G. Yudin, N.S. Voevoda, M.I. 2020-05 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7892495/ http://www.ncbi.nlm.nih.gov/pubmed/33659811 en eng The Federal Research Center Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7892495/ http://www.ncbi.nlm.nih.gov/pubmed/33659811 Copyright © AUTHORS, 2020 http://creativecommons.org/licenses/by/2.5/ This work is licensed under a Creative Commons Attribution 4.0 License CC-BY Vavilovskii Zhurnal Genet Selektsii Original Article Text 2020 ftpubmed 2021-03-07T01:40:21Z The TRPM8 gene encodes the ion channel, which is a cold receptor in afferent neurons of the mammalian somatosensory system. We studied the frequency of haplotype distribution from six SNPs in the TRPM8 gene in Eurasian human populations, including Russians, Kazakhs and Chukchi. Four of the six SNPs are located in exon 7 (rs13004520, rs28901637, rs11562975, rs17868387), rs7593557 is in exon 11. These exons encode parts of the N-terminus, which is necessary for channel functioning in the plasma membrane of neurons. The rs11563071 is in exon 23 encoding part of the C-terminus. The primary difference in population distribution of haplotypes determines the SNP from exon 11 which leads to Ser419Asn substitution in protein. The most pronounced differences in the patterns of diversity and frequencies of haplotypes were observed between Chukchi and Russians. The frequency of major H1 haplotype encompassing the 419Ser gene variant differs in examined populations; 0.738 (Russians), 0.507 (Kazakhs) and 0.337 (Chukchi), p < 0.001. The TRPM8 gene variants encoding 419Asn and carrying the minor alleles of rs28901637 (P249P) and rs11562975 (L250L) in exon 7 are characteristic of Asian populations. The frequency of all 419Asn variants in Chukchi is comparable to that in Africans, however, the minor allele frequencies of rs28901637, rs11562975 in Africans is low. Apparently in the process of human colonization of Eurasia, minor alleles of these SNPs diverged depending on rs7593557 structure in exon 11. We analyzed sequences of five TRPM8 mRNA isoforms extracted by researchers from different tissues. Sequence analysis demonstrates that they are transcribed from major H1 variant of the TRPM8 gene but contain different translation start codons, which are generated by alternative splicing from pro-mRNA. Text Chukchi PubMed Central (PMC)
institution Open Polar
collection PubMed Central (PMC)
op_collection_id ftpubmed
language English
topic Original Article
spellingShingle Original Article
Potapova, T.A.
Romashchenko, A.G.
Yudin, N.S.
Voevoda, M.I.
Ethnicity-specific distribution of TRPM8 gene variants in Eurasian populations: signs of selection
topic_facet Original Article
description The TRPM8 gene encodes the ion channel, which is a cold receptor in afferent neurons of the mammalian somatosensory system. We studied the frequency of haplotype distribution from six SNPs in the TRPM8 gene in Eurasian human populations, including Russians, Kazakhs and Chukchi. Four of the six SNPs are located in exon 7 (rs13004520, rs28901637, rs11562975, rs17868387), rs7593557 is in exon 11. These exons encode parts of the N-terminus, which is necessary for channel functioning in the plasma membrane of neurons. The rs11563071 is in exon 23 encoding part of the C-terminus. The primary difference in population distribution of haplotypes determines the SNP from exon 11 which leads to Ser419Asn substitution in protein. The most pronounced differences in the patterns of diversity and frequencies of haplotypes were observed between Chukchi and Russians. The frequency of major H1 haplotype encompassing the 419Ser gene variant differs in examined populations; 0.738 (Russians), 0.507 (Kazakhs) and 0.337 (Chukchi), p < 0.001. The TRPM8 gene variants encoding 419Asn and carrying the minor alleles of rs28901637 (P249P) and rs11562975 (L250L) in exon 7 are characteristic of Asian populations. The frequency of all 419Asn variants in Chukchi is comparable to that in Africans, however, the minor allele frequencies of rs28901637, rs11562975 in Africans is low. Apparently in the process of human colonization of Eurasia, minor alleles of these SNPs diverged depending on rs7593557 structure in exon 11. We analyzed sequences of five TRPM8 mRNA isoforms extracted by researchers from different tissues. Sequence analysis demonstrates that they are transcribed from major H1 variant of the TRPM8 gene but contain different translation start codons, which are generated by alternative splicing from pro-mRNA.
format Text
author Potapova, T.A.
Romashchenko, A.G.
Yudin, N.S.
Voevoda, M.I.
author_facet Potapova, T.A.
Romashchenko, A.G.
Yudin, N.S.
Voevoda, M.I.
author_sort Potapova, T.A.
title Ethnicity-specific distribution of TRPM8 gene variants in Eurasian populations: signs of selection
title_short Ethnicity-specific distribution of TRPM8 gene variants in Eurasian populations: signs of selection
title_full Ethnicity-specific distribution of TRPM8 gene variants in Eurasian populations: signs of selection
title_fullStr Ethnicity-specific distribution of TRPM8 gene variants in Eurasian populations: signs of selection
title_full_unstemmed Ethnicity-specific distribution of TRPM8 gene variants in Eurasian populations: signs of selection
title_sort ethnicity-specific distribution of trpm8 gene variants in eurasian populations: signs of selection
publisher The Federal Research Center Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences
publishDate 2020
url http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7892495/
http://www.ncbi.nlm.nih.gov/pubmed/33659811
genre Chukchi
genre_facet Chukchi
op_source Vavilovskii Zhurnal Genet Selektsii
op_relation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7892495/
http://www.ncbi.nlm.nih.gov/pubmed/33659811
op_rights Copyright © AUTHORS, 2020
http://creativecommons.org/licenses/by/2.5/
This work is licensed under a Creative Commons Attribution 4.0 License
op_rightsnorm CC-BY
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