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

• Published in: Genomics (San Diego, Calif.) Vol. 58; no. 3; pp. 302 - 309
• Main Authors: Chadwick, Brian P., Mull, James, Helbling, Lisa A., Gill, Sandra, Leyne, Maire, Robbins, Christiane M., Pinkett, Heather W., Makalowska, Izabela, Maayan, Channa, Blumenfeld, Anat, Axelrod, Felicia B., Brownstein, Mike, Gusella, James F., Slaugenhaupt, Susan A.
• Format: Journal Article
• Language: English
• Published: San Diego, CA Elsevier Inc 15.06.1999; Elsevier
• Subjects: Actins - genetics; Adult; Amino Acid Sequence; Animals; Biological and medical sciences; Blotting, Northern; Chromosome Mapping; Chromosomes - genetics; Chromosomes, Human, Pair 9 - genetics; Cloning, Molecular; Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction; DNA - chemistry; DNA - genetics; DNA - isolation & purification; DNA Mutational Analysis; DNA, Complementary - chemistry; DNA, Complementary - genetics; DNA, Complementary - isolation & purification; Dysautonomia, Familial - genetics; Female; Fundamental and applied biological sciences. Psychology; Gene Expression; Genes. Genome; Humans; Male; Medical sciences; Mice; Mice, Inbred C57BL; Molecular and cellular biology; Molecular genetics; Molecular Sequence Data; Muridae; Nervous system (semeiology, syndromes); Neurology; RNA - genetics; RNA - metabolism; Sequence Alignment; Sequence Analysis, DNA; Sequence Homology, Amino Acid; Tissue Distribution; Genetic mapping; Human; Nervous system diseases; Linkage; Nucleotide sequence; Rodentia; Homology; Gene organization; Chromosome 4; Gene expression; Chromosome C9; Genetic disease; Vertebrata; Familial dysautonomia; Mammalia; Mouse; Actin; Diseases of the autonomic nervous system; Multigene family
• ISSN: 0888-7543; 1089-8646
• DOI: 10.1006/geno.1999.5848

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.