array(1) { [0]=> object(AppBundle\Entity\geneTOpubmed)#305 (6) { ["id":"AppBundle\Entity\geneTOpubmed":private]=> int(404) ["geneNihId":"AppBundle\Entity\geneTOpubmed":private]=> int(88) ["pubmedNihId":"AppBundle\Entity\geneTOpubmed":private]=> int(1339456) ["title":"AppBundle\Entity\geneTOpubmed":private]=> string(110) "Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11." ["urltitle":"AppBundle\Entity\geneTOpubmed":private]=> string(109) "cloning-and-characterization-of-two-human-skeletal-muscle-alpha-actinin-genes-located-on-chromosomes-1-and-11" ["content":"AppBundle\Entity\geneTOpubmed":private]=> string(12216) " 1339456 1992 06 05 2007 11 14
0021-9258 267 13 1992 May 05 The Journal of biological chemistry J. Biol. Chem. Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. 9281-8 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 some of the isoform diversity of alpha-actinins is the result of transcription from different genetic loci. Beggs A H AH Division of Genetics, Children's Hospital, Boston, Massachusetts. Byers T J TJ Knoll J H JH Boyce F M FM Bruns G A GA Kunkel L M LM eng GENBANK M74319 M74320 M74321 M74322 M74323 M74324 M76378 M86406 M86407 M86804 HD18658 HD NICHD NIH HHS United States NS23740 NS NINDS NIH HHS United States Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.
United States J Biol Chem 2985121R 0021-9258 0 Dystrophin 0 RNA, Ribosomal 11003-00-2 Actinin 12634-43-4 Spectrin 9007-49-2 DNA IM ACTN2 ACTN3 Actinin genetics Amino Acid Sequence Base Sequence Blotting, Northern Chromosome Mapping Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 11 Cloning, Molecular DNA genetics Dystrophin genetics Fluorescence Humans Hybrid Cells Molecular Sequence Data Muscles metabolism Polymerase Chain Reaction RNA, Ribosomal genetics metabolism Sequence Alignment Sequence Homology, Nucleic Acid Spectrin genetics Transcription, Genetic
1992 5 5 1992 5 5 0 1 1992 5 5 0 0 ppublish 1339456
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