ArticleHuman genetics1993
The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus.
Article in Human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 30 citations in OpenAlex.
- DUX4 at 25: how it emerged from "junk DNA" to become the cause of facioscapulohumeral muscular dystrophy.Skeletal muscle · 2025Review
- Adenine Nucleotide Translocase 1 Promotes Functional Integrity of Mitochondria via Activating DDIT3-CytC Pathway and Intensifying Actin Filament Structures.Molecular neurobiology · 2025Article
- A 20/20 view of ANT function in mitochondrial biology and necrotic cell death.Journal of molecular and cellular cardiology · 2020Review
- Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein.Differentiation; research in biological diversity · 2011Article
- Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification.Neuromolecular medicine · 2003Review
- Genomic acute myeloid leukemia-associated inv(16)(p13q22) breakpoints are tightly clustered.Oncogene · 1999Article
- The Ant1 gene maps near Klk3 on proximal mouse chromosome 8.Mammalian genome : official journal of the International Mammalian Genome Society · 1996Article
- Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.Journal of medical genetics · 1996Article
- Molecular basis of mitochondrial DNA disease.Journal of bioenergetics and biomembranes · 1994Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Facioscapulohumeral muscular dystrophy (FSHD) is a relatively common autosomal dominant neuromuscular disorder. The gene for FSHD has recently been assigned to chromosome 4q35. Although abnormal mitochondrial and biochemical changes have been observed in FSHD, the molecular defect is unknown. In addition to the FSHD gene, the human muscle adenine nucleotide translocator gene (ANT1) is located on chromosome 4. Interestingly, biochemical studies recently showed a possible defect of ANT1. In order to evaluate the potential role of ANT1 in the etiology of FSHD, the human ANT1 gene was isolated by cosmid cloning and localized to 4q35, in the region containing the FSHD gene. However, in situ hybridization and physical mapping of somatic cell hybrids localized the ANT1 gene proximal to the FSHD gene. In addition, a polymorphic CA-repeat 5 kb upstream of the ANT1 gene was used as a marker in FSHD and Centre d'Etude du Polymorphisme Humain families to perform linkage analysis. These data together exclude ANT1 as the primary candidate gene for FSHD. The most likely order of the loci on chromosome 4q35 is cen-ANT1-D4S171-F11-D4S187-D4S163-D4S139-+ ++FSHD-tel.
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