Generation of a 3-Mb PAC Contig Spanning the Miyoshi Myopathy/Limb-Girdle Muscular Dystrophy (MM/LGMD2B) Locus on Chromosome 2p13

Authors: Liu J.1; Wu C.2; Bossie K.1; Bejaoui K.1; Hosler B.A.1; Gingrich J.C.3; Hamida M.B.4; Hentati F.4; Schurr E.5; de Jong P.J.2; Brown R.H.1

Source: Genomics, Volume 49, Number 1, April 1998 , pp. 23-29(7)

Publisher: Academic Press

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Abstract:

Miyoshi myopathy (MM) and limb-girdle muscular dystrophy subtype 2B (LGMD2B) map to the same region on chromosome 2p13. To facilitate the cloning of the defective gene causing these two diseases, we used a combination of chromosome walking and expressed sequence tag (EST) screening and identified 864 P1-derived artificial chromosomes (PACs) whose inserts map to the MM/LGMD2B candidate region and surrounding areas. Among them, 139 are from a chromosome 2-specific PAC library and 725 are from a total genomic PAC library. A 3-Mb contig spanning the candidate region for MM/LGMD2B was assembled. This contig contains 200 PACs, 10 known genetic markers, 5 new polymorphic markers, 57 sequence tagged sites (STSs) generated from PAC end fragments, and 4 random STSs. In addition, we mapped 24 ESTs to this contig and excluded 37 ESTs from the contig, thus eliminating them as candidate MM/LGMD2B genes. The high-resolution, sequence-ready PAC contig for the MM/LGMD2B region provides a backbone for the identification of the disease gene(s) and for clarification of the relationship between the two diseases. Copyright 1998 Academic Press.

Language: English

Document Type: Research article

Affiliations: 1: Day Neuromuscular Research Laboratory, Massachusetts General Hospital East, Room 6627, Building 149, 13th Street, Navy Yard, Charlestown, Massachusetts, 02129 2: Department of Human Genetics, Roswell Park Cancer Institute, Buffalo, New York, 14263 3: Genetic Systems Division, Bio-Rad Laboratories, 2000 Alfred Nobel Drive, Hercules, California, 94547 4: The Molecular Neurogenetics Unit, Tunis, Tunisia 5: Research Institute, Montreal General Hospital, Montreal, Quebec, H3G 1A4, Canada

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