title: Genetic mapping of human heart-skeletal muscle adenine nucleotide translocator and its relationship to the facioscapulohumeral muscular dystrophy locus.
abstract: The mitochondrial heart-skeletal muscle adenine nucleotide translocator (ANT1) was regionally mapped to 4q35-qter using somatic cell hybrids containing deleted chromosome 4. The regional location was further refined through family studies using ANT1 intron and promoter nucleotide polymorphisms recognized by the restriction endonucleases MboII, NdeI, and HaeIII. Two alleles were found, each at a frequency of 0.5. The ANT1 locus was found to be closely linked to D4S139, D4S171, and the dominant skeletal muscle disease locus facioscapulohumeral muscular dystrophy (FSHD). A crossover that separated D4S171 and ANT1 from D4S139 was found. Since previous studies have established the chromosome 4 map order as centromere-D4S171-D4S139-FSHD, it was concluded that ANT1 is located on the side of D4S139, that is opposite from FSHD. This conclusion was confirmed by sequencing the exons and analyzing the transcripts of ANT1 from several FSHD patients and finding no evidence of aberration.
authors.affiliation: Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia 30322.
authors.forename: Y
authors.initials: Y
authors.lastname: Haraguchi
authors.forename: A B
authors.initials: AB
authors.lastname: Chung
authors.forename: A
authors.initials: A
authors.lastname: Torroni
authors.forename: G
authors.initials: G
authors.lastname: Stepien
authors.forename: J M
authors.initials: JM
authors.lastname: Shoffner
authors.forename: J J
authors.initials: JJ
authors.lastname: Wasmuth
authors.forename: D A
authors.initials: DA
authors.lastname: Costigan
authors.forename: M
authors.initials: M
authors.lastname: Polak
authors.forename: M R
authors.initials: MR
authors.lastname: Altherr
authors.forename: S T
authors.initials: ST
authors.lastname: Winokur
mesh_terms: D000483:Alleles; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D006224:Cricetinae; D005260:Female; D005796:Genes; D008040:Genetic Linkage; D006801:Humans; D006822:Hybrid Cells; D008297:Male; D000226:Mitochondrial ADP, ATP Translocases / Q000235:genetics*; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000235:genetics*; D010085:Oxidative Phosphorylation; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D009124:Muscle Proteins; D000226:Mitochondrial ADP, ATP Translocases