Origin and evolution of the c.844_845ins68/c.833T>C mutations within the cystathionine beta-synthase gene in great apes.

FEBS Letters
Maurizio RomanoF E Baralle

Abstract

The c.[833C; 844_845ins68] is a common haplotype of the human cystathionine beta-synthase gene among healthy individuals. This polymorphism (5-40% allelic frequency in different populations) consists of the c.844_845ins68 insertion that segregates in cis with the pathogenic c.833T>C substitution (p.I278T). Through genotyping of primates, we have found that gorillas, chimpanzees and bonobos are homozygous for the 68bp insertion, c.844_845ins68. In gorillas and bonobos, the c.844_845ins68 lesion segregates in cis with the wild-type c.833T variant, whilst chimpanzees present the human haplotype. These genetic evidences suggest that the origin of the 68bp insertion might be dated back to 6-8 million years ago, and that the c.833T>C substitution occurred within the allele carrying the insertion. The evolutionary conservation of this peculiar haplotype supports the hypothesis of its protective effects against cardiovascular diseases.

References

Feb 12, 1998·Biochemical and Molecular Medicine·L A KluijtmansH J Blom
May 25, 1999·Human Mutation·J P KrausM Gaustadnes
Sep 14, 2002·The Journal of Biological Chemistry·Maurizio RomanoFrancisco E Baralle
Mar 20, 2003·Molecular Biology and Evolution·Galina V Glazko, Masatoshi Nei
Jul 12, 2003·Molecular Genetics and Metabolism·Bohumila JanosíkováViktor Kozich
Aug 20, 2004·Proceedings of the National Academy of Sciences of the United States of America·Michael HofreiterSvante Pääbo
Sep 2, 2005·Nature·UNKNOWN Chimpanzee Sequencing and Analysis Consortium
Oct 27, 2006·Molecular Biology and Evolution·O ThalmannL Vigilant

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Citations

Oct 1, 2011·Birth Defects Research. Part A, Clinical and Molecular Teratology·Melissa M TilleyKit Sing Au

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