Journal article
A founder mutation in the γ-sarcoglycan gene of Gypsies possibly predating their migration out of India
Human molecular genetics, Vol.5(12), pp.2019-2022
1996
DOI: 10.1093/hmg/5.12.2019
PMID: 8968757
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.
Details
- Title: Subtitle
- A founder mutation in the γ-sarcoglycan gene of Gypsies possibly predating their migration out of India
- Creators
- F PICCOLO - INSERM 129 and Service de Biochimie et Génétique Moléculaire, Hôpital Cochin, 123 boulevard de Port-Royal, 75014 Paris, FranceM JEANPIERRE - INSERM 129 and Service de Biochimie et Génétique Moléculaire, Hôpital Cochin, 123 boulevard de Port-Royal, 75014 Paris, FranceF. M. S TOME - INSERM 153, Paris, FranceJ. A URTIZBEREA - AFM, 13 place de Rungis, Paris, FranceJ. S BECKMANN - Généthon, Evry, FranceK. P CAMPBELL - University of Iowa, College of Medicine, Iowa City, IA, United StatesJ.-C KAPLAN - INSERM 129 and Service de Biochimie et Génétique Moléculaire, Hôpital Cochin, 123 boulevard de Port-Royal, 75014 Paris, FranceF LETURCQ - INSERM 129 and Service de Biochimie et Génétique Moléculaire, Hôpital Cochin, 123 boulevard de Port-Royal, 75014 Paris, FranceC DODE - INSERM 129 and Service de Biochimie et Génétique Moléculaire, Hôpital Cochin, 123 boulevard de Port-Royal, 75014 Paris, FranceK AZIBI - INSERM 129 and Service de Biochimie et Génétique Moléculaire, Hôpital Cochin, 123 boulevard de Port-Royal, 75014 Paris, FranceA TOUTAIN - CHU Tours, FranceL MERLINI - Istituto Ortopedico Rizzoli, Bologna, ItalyL JARRE - Osp. Regina Margherita, Torino, ItalyC NAVARRO - INSERM 129 and Service de Biochimie et Génétique Moléculaire, Hôpital Cochin, 123 boulevard de Port-Royal, 75014 Paris, FranceR KRISHNAMOORTHY - INSERM 120, Paris, France
- Resource Type
- Journal article
- Publication Details
- Human molecular genetics, Vol.5(12), pp.2019-2022
- Publisher
- Oxford University Press; Oxford
- DOI
- 10.1093/hmg/5.12.2019
- PMID
- 8968757
- ISSN
- 0964-6906
- eISSN
- 1460-2083
- Language
- English
- Date published
- 1996
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
- Record Identifier
- 9984068261702771
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