The functional A allele was resurrected via recombination in the human ABO blood group gene.
Functional A and B alleles are distinguished at two critical sites in exon 7 of the human ABO blood group gene. The most frequent nonfunctional O alleles have one-base deletion in exon 6 producing a frameshift, and it has the A type signature in two critical sites in exon 7. Previous studies indicated that B and O alleles were derived from A allele in human lineage. In this study, we conducted a phylogenetic network analysis using six representative haplotypes: A101, A201, B101, O01, O02, and O09. The result indicated that the A allele, possibly once extinct in the human lineage a long time ago, was resurrected by a recombination between B and O alleles less than 300,000 years ago.
Department of Biomolecular Functional Engineering, College of Engineering, Ibaraki University, Hitachi, Japan. tkitano@mx.ibaraki.ac.jp
Takashi
T
Kitano
Antoine
A
Blancher
Naruya
N
Saitou
D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D000818:Animals; D019143:Evolution, Molecular; D005091:Exons; D006239:Haplotypes; D015186:Hominidae / Q000235:genetics; D006801:Humans; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide; D011995:Recombination, Genetic
D000017:ABO Blood-Group System