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

Maurizio Romano, Maria Giulia Bacalini, Ernst J. Verschoor, Sergio Crovella, Francisco E. Baralle

Research output: Contribution to journalArticle

Abstract

The c.[833C; 844_845ins68] is a common haplotype of the human cystathionine β-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 68 bp 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 68 bp 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.

Original languageEnglish
Pages (from-to)423-426
Number of pages4
JournalFEBS Letters
Volume582
Issue number3
DOIs
Publication statusPublished - Feb 6 2008

Keywords

  • 844ins68
  • Alternative splicing
  • Apes
  • CBS
  • Evolution
  • T833C

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology

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