GEPHE SUMMARY
Entry Status
Published
GepheID
GP00000017
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Homo sapiens; other primates - blood group A
Trait State in Taxon B
Homo sapiens; other primates -blood group B
Ancestral State
Data not curated
Taxonomic Status
Taxon A
Latin Name
Common Name
-
Synonyms
Homo/Pan/Gorilla group
Rank
subfamily
Lineage
Show more ... uteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini; Hominoidea; Hominidae
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
-
Synonyms
Homo/Pan/Gorilla group
Rank
subfamily
Lineage
Show more ... uteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini; Hominoidea; Hominidae
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Presumptive Null
No
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
Gly268 (group A) <-> Ala (group B)
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid - - -
Authors
Yamamoto F; Hakomori S
Abstract
Four amino acid substitutions (aa 176, 235, 266, and 268) have been found between the coding regions of cDNAs for histo-blood group A and B transferases (Yamamoto F., Clausen, H., White, T., Marken, J., and Hakomori, S. (1990) Nature 345, 229-233). Here we establish the basis of differential affinity of these glycosyltransferases to nucleotide-sugar (UDP-GalNAc or UDP-Gal). On the basis of gene reconstruction experiments and studies of expression in DNA transfected HeLa cells, the third as well as the fourth aa substitutions (leucine and glycine in A and methionine and alanine in B), which were calculated to modify flexibility of the protein, were found to be crucial in determining nucleotide-sugar specificity. The second substitution (glycine in A and serine in B) also affects the specificity. We have also created new enzymes which catalyze the transfer of both GalNAc and Gal, and may provide an explanation of the rare cis-AB phenotype.
RELATED GEPHE
Related Genes
Related Haplotypes
7
COMMENTS
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