title: Cloning and chromosomal localization of the human cytoskeletal alpha-actinin gene reveals linkage to the beta-spectrin gene.
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.
authors.affiliation: Whitehead Institute for Biomedical Research, Cambridge, MA.
authors.forename: H
authors.initials: H
authors.lastname: Youssoufian
authors.forename: M
authors.initials: M
authors.lastname: McAfee
authors.forename: D J
authors.initials: DJ
authors.lastname: Kwiatkowski
mesh_terms: D000185:Actinin / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D015139:Blotting, Southern; D002645:Chickens; D002883:Chromosomes, Human, Pair 14; D003001:Cloning, Molecular; D008040:Genetic Linkage; D006801:Humans; D007621:Karyotyping; D008969:Molecular Sequence Data; D015345:Oligonucleotide Probes; D015183:Restriction Mapping; D012689:Sequence Homology, Nucleic Acid; D013049:Spectrin / Q000235:genetics*
chemical_list: C526905:ACTN1 protein, human; D015345:Oligonucleotide Probes; D000185:Actinin; D013049:Spectrin