Document Detail


Genetic mapping of human heart-skeletal muscle adenine nucleotide translocator and its relationship to the facioscapulohumeral muscular dystrophy locus.
MedLine Citation:
PMID:  8100217     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
Y Haraguchi; A B Chung; A Torroni; G Stepien; J M Shoffner; J J Wasmuth; D A Costigan; M Polak; M R Altherr; S T Winokur
Related Documents :
3399077 - Neonatal rhabdomyolysis as a presentation of muscular dystrophy.
18562127 - Dystrophin: from non-ischemic cardiomyopathy to ischemic cardiomyopathy.
18852887 - A functional role for 4qa/b in the structural rearrangement of the 4q35 region and in t...
12398227 - Genetic disorders in premature ovarian failure.
2115397 - A case of malignant mastocytosis with near-haploid, near-diploid, and polyploid cells i...
9412457 - Lack of checkpoint control at the metaphase/anaphase transition: a mechanism of meiotic...
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Genomics     Volume:  16     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1993 May 
Date Detail:
Created Date:  1993-07-26     Completed Date:  1993-07-26     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  479-85     Citation Subset:  IM    
Affiliation:
Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia 30322.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Alleles
Animals
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 4*
Cricetinae
Female
Genes*
Humans
Hybrid Cells
Linkage (Genetics)
Male
Mitochondrial ADP, ATP Translocases / genetics*
Molecular Sequence Data
Muscle Proteins / genetics*
Muscular Dystrophies / genetics*
Oxidative Phosphorylation
Pedigree
Polymorphism, Restriction Fragment Length
Grant Support
ID/Acronym/Agency:
GM46915/GM/NIGMS NIH HHS; HL45572/HL/NHLBI NIH HHS; NS21328/NS/NINDS NIH HHS
Chemical
Reg. No./Substance:
0/Muscle Proteins; 9068-80-8/Mitochondrial ADP, ATP Translocases

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Assignment of 20 microsatellite markers to the porcine linkage map.
Next Document:  A genetic linkage map with 29 loci spanning human chromosome 13q.