Cargando…
Analysis of a Larger SNP Dataset from the HapMap Project Confirmed That the Modern Human A Allele of the ABO Blood Group Genes Is a Descendant of a Recombinant between B and O Alleles
The human ABO blood group gene consists of three main alleles (A, B, and O) that encode a glycosyltransferase. The A and B alleles differ by two critical amino acids in exon 7, and the major O allele has a single nucleotide deletion (Δ261) in exon 6. Previous evolutionary studies have revealed that...
Autores principales: | , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3830805/ https://www.ncbi.nlm.nih.gov/pubmed/24288652 http://dx.doi.org/10.1155/2013/406209 |
_version_ | 1782291525801082880 |
---|---|
author | Itou, Masaya Sato, Mitsuharu Kitano, Takashi |
author_facet | Itou, Masaya Sato, Mitsuharu Kitano, Takashi |
author_sort | Itou, Masaya |
collection | PubMed |
description | The human ABO blood group gene consists of three main alleles (A, B, and O) that encode a glycosyltransferase. The A and B alleles differ by two critical amino acids in exon 7, and the major O allele has a single nucleotide deletion (Δ261) in exon 6. Previous evolutionary studies have revealed that the A allele is the most ancient, B allele diverged from the A allele with two critical amino acid substitutions in exon 7, and the major O allele diverged from the A allele with Δ261 in exon 6. However, a recent phylogenetic network analysis study showed that the A allele of humans emerged through a recombination between the B and O alleles. In the previous study, a restricted dataset from only two populations was used. In this study, therefore, we used a large single nucleotide polymorphism (SNP) dataset from the HapMap Project. The results indicated that the A101-A201-O09 haplogroup was a recombinant lineage between the B and O haplotypes, containing the intact exon 6 from the B allele and the two critical A type sites in exon 7 from the major O allele. Its recombination point was assumed to be located just behind Δ261 in exon 6. |
format | Online Article Text |
id | pubmed-3830805 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Hindawi Publishing Corporation |
record_format | MEDLINE/PubMed |
spelling | pubmed-38308052013-11-28 Analysis of a Larger SNP Dataset from the HapMap Project Confirmed That the Modern Human A Allele of the ABO Blood Group Genes Is a Descendant of a Recombinant between B and O Alleles Itou, Masaya Sato, Mitsuharu Kitano, Takashi Int J Evol Biol Research Article The human ABO blood group gene consists of three main alleles (A, B, and O) that encode a glycosyltransferase. The A and B alleles differ by two critical amino acids in exon 7, and the major O allele has a single nucleotide deletion (Δ261) in exon 6. Previous evolutionary studies have revealed that the A allele is the most ancient, B allele diverged from the A allele with two critical amino acid substitutions in exon 7, and the major O allele diverged from the A allele with Δ261 in exon 6. However, a recent phylogenetic network analysis study showed that the A allele of humans emerged through a recombination between the B and O alleles. In the previous study, a restricted dataset from only two populations was used. In this study, therefore, we used a large single nucleotide polymorphism (SNP) dataset from the HapMap Project. The results indicated that the A101-A201-O09 haplogroup was a recombinant lineage between the B and O haplotypes, containing the intact exon 6 from the B allele and the two critical A type sites in exon 7 from the major O allele. Its recombination point was assumed to be located just behind Δ261 in exon 6. Hindawi Publishing Corporation 2013 2013-10-29 /pmc/articles/PMC3830805/ /pubmed/24288652 http://dx.doi.org/10.1155/2013/406209 Text en Copyright © 2013 Masaya Itou et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Itou, Masaya Sato, Mitsuharu Kitano, Takashi Analysis of a Larger SNP Dataset from the HapMap Project Confirmed That the Modern Human A Allele of the ABO Blood Group Genes Is a Descendant of a Recombinant between B and O Alleles |
title | Analysis of a Larger SNP Dataset from the HapMap Project Confirmed That the Modern Human A Allele of the ABO Blood Group Genes Is a Descendant of a Recombinant between B and O Alleles |
title_full | Analysis of a Larger SNP Dataset from the HapMap Project Confirmed That the Modern Human A Allele of the ABO Blood Group Genes Is a Descendant of a Recombinant between B and O Alleles |
title_fullStr | Analysis of a Larger SNP Dataset from the HapMap Project Confirmed That the Modern Human A Allele of the ABO Blood Group Genes Is a Descendant of a Recombinant between B and O Alleles |
title_full_unstemmed | Analysis of a Larger SNP Dataset from the HapMap Project Confirmed That the Modern Human A Allele of the ABO Blood Group Genes Is a Descendant of a Recombinant between B and O Alleles |
title_short | Analysis of a Larger SNP Dataset from the HapMap Project Confirmed That the Modern Human A Allele of the ABO Blood Group Genes Is a Descendant of a Recombinant between B and O Alleles |
title_sort | analysis of a larger snp dataset from the hapmap project confirmed that the modern human a allele of the abo blood group genes is a descendant of a recombinant between b and o alleles |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3830805/ https://www.ncbi.nlm.nih.gov/pubmed/24288652 http://dx.doi.org/10.1155/2013/406209 |
work_keys_str_mv | AT itoumasaya analysisofalargersnpdatasetfromthehapmapprojectconfirmedthatthemodernhumanaalleleoftheabobloodgroupgenesisadescendantofarecombinantbetweenbandoalleles AT satomitsuharu analysisofalargersnpdatasetfromthehapmapprojectconfirmedthatthemodernhumanaalleleoftheabobloodgroupgenesisadescendantofarecombinantbetweenbandoalleles AT kitanotakashi analysisofalargersnpdatasetfromthehapmapprojectconfirmedthatthemodernhumanaalleleoftheabobloodgroupgenesisadescendantofarecombinantbetweenbandoalleles |