Assignment of the methylmalonyl-CoA mutase gene (MUT) to porcine chromosome 7q13→q14 by in situ hybridization and analysis of radiation hybrid panels
Author(s) -
S. Kierstein,
U. Peters,
Felix A. Habermann,
Ruedi Fries,
Bertram Brenig
Publication year - 2003
Publication title -
cytogenetic and genome research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.571
H-Index - 88
ISSN - 1424-8581
DOI - 10.1159/000073684
Subject(s) - biology , in situ hybridization , mutase , in situ , radiation hybrid mapping , gene , gene mapping , chromosome , genetics , microbiology and biotechnology , gene expression , physics , meteorology
Methylmalonyl-CoA mutase (MCM) is a nuclear encoded mitochondrial matrix enzyme which catalyses the isomerisation between methylmalonyl-CoA and succinyl-CoA. Inborn genetic defects in the MUT gene encoding human MCM give rise to a serious disorder of propionic acid and methylmalonic acid metabolism termed mut methylmalonic aciduria (Crane et al., 1994). The clinical manifestation of the disease varies from minor symptoms to severe neuro-muscular disorders (Ledley et al., 1997). The molecular cloning of the porcine MUT gene and its chromosomal localization will enable further investigations of the gene and its significance in neuromuscular disorders in pig and piglet survival. The human and mouse orthologous genes were assigned to HSA6p21→p12 and MMU17C–D, respectively (Ledley et al., 1988; Sertic et al., 1990; Threadgill et al., 1990). Materials and methods
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