A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India

Details

Serval ID
serval:BIB_72FF80B33047
Type
Article: article from journal or magazin.
Collection
Publications
Title
A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India
Journal
Human Molecular Genetics
Author(s)
Piccolo  F., Jeanpierre  M., Leturcq  F., Dode  C., Azibi  K., Toutain  A., Merlini  L., Jarre  L., Navarro  C., Krishnamoorthy  R., Tome  F. M., Urtizberea  J. A., Beckmann  J. S., Campbell  K. P., Kaplan  J. C.
ISSN
0964-6906 (Print)
Publication state
Published
Issued date
12/1996
Volume
5
Number
12
Pages
2019-22
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Dec
Abstract
We investigated the molecular basis of a severe form of early onset autosomal recessive muscular dystrophy with sarcoglycan (SG) deficiency in seven large Gypsy families living in different parts of Western Europe and apparently not closely related. They were linked to the LGMD2C locus (13q12) suggesting a primary defect in the gamma-SG gene coding for the 35 kDa dystrophin-associated glycoprotein. All of the 18 investigated patients were homozygous for the same G-->A transition in codon 283 producing the replacement of a conserved cysteine of the extra-cellular domain of the protein by a tyrosine. All affected chromosomes in homozygous and heterozygous relatives carried the same allele 5 of the intragenic marker D13S232. Flanking markers were studied to delineate a common ancestral haplotype, the size of which was used to compute the date of the founding mutation. We found evidence that the mutation occurred between 60 and 200 generations ago, therefore possibly predating the commonly accepted date of migration of the Gypsy ancestors out of India.
Keywords
Biological Markers Cytoskeletal Proteins/*genetics Europe/epidemiology Genetics, Population *Gypsies Humans India/ethnology Membrane Glycoproteins/*genetics Muscular Dystrophies/*ethnology/genetics Sarcoglycans
Pubmed
Web of science
Open Access
Yes
Create date
25/01/2008 16:18
Last modification date
20/08/2019 14:31
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