NDLI: Cloning and chromosomal localization of the human cytoskeletal alpha-actinin gene reveals linkage to the beta-spectrin gene.

Content Provider	PubMed Central
Author	Youssoufian, H. Mcafee, M. Kwiatkowski, D. J.
Abstract	We report the cloning and characterization of a full-length cDNA encoding the human cytoskeletal isoform of alpha-actinin (alpha A), a ubiquitous actin-binding protein that shares structural homology with spectrin and dystrophin. The gene encodes 891 amino acids with 96%-98% sequence identity at the amino acid level to chicken nonskeletal muscle alpha A. Transient expression in COS cells produces a protein of approximately 104 kD that comigrates on SDS-PAGE with native alpha A. This alpha A gene is localized to chromosome 14q22-q24 by somatic cell hybrid and in situ hybridization analyses. Pulsed-field gel analysis of human genomic DNA revealed identically sized fragments when cDNA probes for alpha A and erythroid beta-spectrin were used; the latter gene has been previously localized to chromosome 14, band q22. These observations indicate that the genes for cytoskeletal alpha A and beta-spectrin are, in all likelihood, closely physically linked and that, in accordance with their similar structural features, they arose by partial duplication of an ancestral gene.
Starting Page	62
File Format	PDF
ISSN	15376605
e-ISSN	15376605
Journal	American Journal of Human Genetics
Issue Number	1
Volume Number	47
Language	English
Publisher Date	1990-07-01
Access Restriction	Open
Subject Keyword	Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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Cloning and chromosomal localization of the human cytoskeletal alpha-actinin gene reveals linkage to the beta-spectrin gene.