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| CLONING AND CHARACTERIZATION OF 2 HUMAN SKELETAL-MUSCLE ALPHA-ACTININ GENES LOCATED ON CHROMOSOME-1 AND CHROMOSOME-11 |
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| Author(s): BEGGS AH, BYERS TJ, KNOLL JHM, BOYCE FM, BRUNS GAP, KUNKEL LM |
| Source: JOURNAL OF BIOLOGICAL CHEMISTRY Volume: 267 Issue: 13 Pages: 9281-9288 Published: MAY 5 1992 |
| Times Cited: 145 References: 55 |
| Abstract: Conserved sequences of dystrophin, beta-spectrin, and alpha-actinin were used to plan a set of degenerate oligonucleotide primers with which we amplified a portion of a human alpha-actinin gene transcript. Using this short clone as a probe, we isolated and characterized full-length cDNA clones for two human alpha-actinin genes (ACTN2 and ACTN3). These genes encode proteins that are structurally similar to known alpha-actinins with approximately 80% amino acid identity to each other and to the previously characterized human nonmuscle gene. ACTN2 is the human homolog of a previously characterized chicken gene while ACTN3 represents a novel gene product. Northern blot analysis demonstrated that ACTN2 is expressed in both skeletal and cardiac muscle, but ACTN3 expression is limited to skeletal muscle. As with other muscle-specific isoforms, the EF-hand domains in ACTN2 and ACTN3 are predicted to be incapable of binding calcium, suggesting that actin binding is not calcium sensitive. ACTN2 was mapped to human chromosome 1q42-q43 and ACTN3 to 11q13-q14 by somatic cell hybrid panels and fluorescent in situ hybridization. These results demonstrate that rome of the isoform diversity of alpha-actinins is the result of transcription from different genetic loci. |
| Document Type: Article |
| Language: English |
| Reprint Address: BEGGS, AH (reprint author), HARVARD UNIV, CHILDRENS HOSP, SCH MED, HOWARD HUGHES MED INST, DEPT PEDIAT, BOSTON, MA 02115 USA |
Addresses:
1. HARVARD UNIV, SCH MED, DIV GENET, BOSTON, MA 02115 USA |
| Publisher: AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC, 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 |
| Subject Category: Biochemistry & Molecular Biology |
| IDS Number: HR854 |
| ISSN: 0021-9258 |
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