Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24

Journal Article · Tue May 10 04:00:00 EDT 1994 · Proceedings of the National Academy of Sciences of the United States of America

DOI:https://doi.org/10.1073/pnas.91.10.4446· OSTI ID:50644

Ahn, A H ^[1]; Yoshida, Mikiharu; Hagiwara, Yasuko; Ozawa, Eijiro ^[2]; Anderson, M S; Feener, C A; Selig, S ^[3]; Kunkel, L M ^[1]

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1. Harvard Medical School, Boston, MA (United States)
2. National Institute of Neuroscience, Ogawa Higashi, Kodaira (Japan)
3. Howard Hughes Medical Institute at Children`s Hospital, Boston, MA (United States)

Duchenne and Becker muscular dystrophies are caused by defects of dystrophin, which forms a part of the membrane cytoskeleton of specialized cells such as muscle. It has been previously shown that the dystrophin-associated protein A1 (59-kDa DAP) is actually a heterogeneous group of phosphorylated proteins consisting of an acidic ({alpha}-A1) and a distinct basic ({beta}-A1) component. Partial peptide sequence of the A1 complex purified from rabbit muscle permitted the design of oligonucleotide probes that were used to isolate a cDNA for one human isoform of A1. This cDNA encodes a basic A1 isoform that is distinct from the recently described syntrophins in Torpedo and mouse and is expressed in many tissues with at least five distinct mRNA species of 5.9, 4.8, 4.3, 3.1, and 1.5 kb. A comparison of the human cDNA sequence with the GenBank expressed sequence tag (EST) data base has identified a relative from human skeletal muscle, EST25263, which is probably a human homologue of the published mouse syntrophin 2. The authors have mapped the human basic component of A1 and EST25263 genes to chromosomes 8q23-24 and 16, respectively.

• Sponsoring Organization: USDOE
• OSTI ID: 50644
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America, Journal Name: Proceedings of the National Academy of Sciences of the United States of America Journal Issue: 10 Vol. 91; ISSN PNASA6; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 8
MUSCLES