Patterns of human genetic variation inferred from comparative analysis of allelic mutations in blood group antigen genes

BGMUT Database of Allelic Variants of Genes Encoding Human Blood Group Antigens

“…That the mode of sequence diversification is not identical for all blood group genes can be seen in a comparison of the sequence changes among these alleles. Similarly, recurrent mutations can be seen among their alleles for only some of the genes [16]. These observations show the additional value of BGMUT in expanding our knowledge on genetic variation.…”

“…The high numbers of alleles of ABO , RHCE / RHD , GYPA / GYPB , FUT1 / FUT2 and KEL genes compiled in BGMUT seem to be an exception. The availability of such high numbers and the molecular knowledge for their variation provides an opportunity to examine and compare patterns for the origin of sequence changes [16]. Thus, despite the caveat that in a number of alleles of the above genes only partial exonic sequences are available for a closer scrutiny, a few challenging observations become apparent and are reinforced by examination of alleles of additional genes in the database.…”

“…All genes diversify by nucleotide substitutions (sense, missense or nonsense), deletions, or insertions; however, a significant number of alleles of ABO , GYPA / GYPB, and RHCE / RHD genes originate through gene recombination such as gene conversions or unequal crossovers. This is discussed in a number of articles [5,16,17,18]. GYPA / GYPB , RHCE / RHD, and FUT1 / FUT2 form duplicated/multiple gene families, whereas ABO and KEL are single copy genes.…”

BGMUT: NCBI dbRBC database of allelic variations of genes encoding antigens of blood group systems

“…Alignments of DNA changes in alleles of a single gene or a gene family may uncover patterns that provide some insights into the process of diversification, including gene rearrangements and meiotic or unequal recombination (7). An attempt to correlate DNA changes in the gene(s) encoding the antigen(s), with the serological phenotype or the glycosyltransferase activity, shows that even though variation in common alleles occurs within the same sequence stretches that define the common epitopic regions (4), in rare alleles, changes that affect the serological response are seen throughout the exons.…”

NCBI dbRBC database of allelic variationsof genes encoding antigens of blood group systems

“…Alignments of DNA changes in alleles of a single geneor a gene family may uncover patterns that provide some insights into the process of diversification, including gene rearrangements and meiotic or unequal recombination (7).An attempt to correlate DNA changes in the gene(s)encoding the antigen(s), with the serological phenotype or the glycosyltransferase activity, shows that even thoughvariation in common alleles occurs within the samesequence stretches that define the common epitopicregions (4), in rare alleles, changes that affect the sero-logical response are seen throughout the exons. The result-ing amino acid alterations may cause altered folding that interferes with epitope presentation or gives rise to newepitopes.…”