Document Detail


Human adhalin is alternatively spliced and the gene is located on chromosome 17q21.
MedLine Citation:
PMID:  7937874     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Mutations in the dystrophin gene cause the X chromosome-linked, recessive Duchenne and Becker muscular dystrophies. Dystrophin, a large cytoskeletal protein, copurifies with a complex of dystrophin-associated proteins which serve to anchor dystrophin to the sarcolemma. One of these associated proteins, adhalin, has been implicated as a candidate for severe childhood autosomal recessive muscular dystrophy (SCARMD) due to absence of anti-adhalin staining in muscle biopsy samples taken from SCARMD patients. Furthermore, the Duchenne-like dystrophic phenotype seen in the SCARMD families was shown to be tightly linked to chromosome 13 markers. To determine the genetic mutation responsible for autosomal dystrophy, we characterized the human adhalin gene. Contrary to our expectation, human adhalin was mapped to chromosome 17q21, excluding adhalin as the gene causing chromosome 13-associated SCARMD. Additionally, a splice form of adhalin message was found that predicts a 35-kDa nontransmembrane adhalin. The expression of both adhalin splice forms is exclusively restricted to striated muscle, unlike other components of the dystrophin-glycoprotein complex.
Authors:
E M McNally; M Yoshida; Y Mizuno; E Ozawa; L M Kunkel
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Proceedings of the National Academy of Sciences of the United States of America     Volume:  91     ISSN:  0027-8424     ISO Abbreviation:  Proc. Natl. Acad. Sci. U.S.A.     Publication Date:  1994 Oct 
Date Detail:
Created Date:  1994-11-10     Completed Date:  1994-11-10     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  7505876     Medline TA:  Proc Natl Acad Sci U S A     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  9690-4     Citation Subset:  IM    
Affiliation:
Division of Genetics, Children's Hospital, Boston, MA.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/L34355
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MeSH Terms
Descriptor/Qualifier:
Alternative Splicing*
Amino Acid Sequence
Animals
Base Sequence
Blotting, Northern
Chromosome Mapping
Chromosomes, Human, Pair 17*
Cloning, Molecular
Cytoskeletal Proteins / biosynthesis*,  genetics*
DNA Primers
DNA, Complementary / isolation & purification
Gene Expression
Humans
Karyotyping
Membrane Glycoproteins / biosynthesis*,  genetics*
Molecular Sequence Data
Muscular Dystrophies / genetics*
Polymerase Chain Reaction
RNA, Messenger / biosynthesis
Rabbits
Sarcoglycans
Grant Support
ID/Acronym/Agency:
NS 23740/NS/NINDS NIH HHS
Chemical
Reg. No./Substance:
0/Cytoskeletal Proteins; 0/DNA Primers; 0/DNA, Complementary; 0/Membrane Glycoproteins; 0/RNA, Messenger; 0/Sarcoglycans
Comments/Corrections

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


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