Cloning, Mapping, and Expression of Two Novel Actin Genes, Actin-like-7A (ACTL7A) and Actin-like-7B (ACTL7B), from the Familial Dysautonomia Candidate Region on 9q31 |
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| Authors: | Brian P. Chadwick James Mull Lisa A. Helbling Sandra Gill Maire Leyne Christiane M. Robbins Heather W. Pinkett Izabela Makalowska Channa Maayan Anat Blumenfeld Felicia B. Axelrod Mike Brownstein James F. Gusella Susan A. Slaugenhaupt |
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| Affiliation: | a Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, Massachusetts, 02129;b Harvard Institute of Human Genetics, Harvard Medical School, Boston, Massachusetts, 02115;c Cancer Genetics Branch, National Human Genome Research Institute, National Institute of Mental Health/National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, 20892;d Genome Technology Branch, National Human Genome Research Institute, National Institute of Mental Health/National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, 20892;h National Human Genome Research Institute, Laboratory of Genetics, National Institute of Mental Health/National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, 20892;f Unit for Development of Molecular Biology and Genetic Engineering, Hadassah University Hospital, Jerusalem, Israel;e Department of Pediatrics, Hadassah University Hospital, Jerusalem, Israel;g Department of Pediatrics, New York University Medical School, New York, New York, 10016 |
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| Abstract: | Two novel human actin-like genes, ACTL7A and ACTL7B, were identified by cDNA selection and direct genomic sequencing from the familial dysautonomia candidate region on 9q31. ACTL7A encodes a 435-amino-acid protein (predicted molecular mass 48.6 kDa) and ACTL7B encodes a 415-amino-acid protein (predicted molecular mass 45.2 kDa) that show greater than 65% amino acid identity to each other. Genomic analysis revealed ACTL7A and ACTL7B to be intronless genes contained on a common 8-kb HindIII fragment in a “head-to-head” orientation. The murine homologues were cloned and mapped by linkage analysis to mouse chromosome 4 in a region of gene order conserved with human chromosome 9q31. No recombinants were observed between the two genes, indicating a close physical proximity in mouse. ACTL7A is expressed in a wide variety of adult tissues, while the ACTL7B message was detected only in the testis and, to a lesser extent, in the prostate. No coding sequence mutations, genomic rearrangements, or differences in expression were detected for either gene in familial dysautonomia patients. |
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