Genetic mapping of human heart-skeletal muscle adenine nucleotide translocator and its relationship to the facioscapulohumeral muscular dystrophy locus

Journal Article · Sat May 01 04:00:00 EDT 1993 · Genomics

DOI:https://doi.org/10.1006/geno.1993.1214· OSTI ID:28975

Haraguchi, Y; Chung, A B; Torroni, A; Stepien, G; Shoffner, J M; Costigan, D A; Polak, M ^[1]; Wasmuth, J J; Altherr, M R; Winokur, S T ^[2]

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1. Emory Univ. School of Medicine, Atlanta, GA (United States)
2. Univ. of California, Irvine, CA (United States); and others

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. 35 refs., 5 figs., 1 tab.

• OSTI ID: 28975
• Journal Information: Genomics, Journal Name: Genomics Journal Issue: 2 Vol. 16; ISSN 0888-7543; ISSN GNMCEP
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
ADP
ATP
DNA SEQUENCING
DNA-CLONING
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOMES
MEMBRANE PROTEINS
MUSCLES