title: 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.
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.
authors.affiliation: Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA.
authors.forename: B P
authors.initials: BP
authors.lastname: Chadwick
authors.forename: J
authors.initials: J
authors.lastname: Mull
authors.forename: L A
authors.initials: LA
authors.lastname: Helbling
authors.forename: S
authors.initials: S
authors.lastname: Gill
authors.forename: M
authors.initials: M
authors.lastname: Leyne
authors.forename: C M
authors.initials: CM
authors.lastname: Robbins
authors.forename: H W
authors.initials: HW
authors.lastname: Pinkett
authors.forename: I
authors.initials: I
authors.lastname: Makalowska
authors.forename: C
authors.initials: C
authors.lastname: Maayan
authors.forename: A
authors.initials: A
authors.lastname: Blumenfeld
authors.forename: F B
authors.initials: FB
authors.lastname: Axelrod
authors.forename: M
authors.initials: M
authors.lastname: Brownstein
authors.forename: J F
authors.initials: JF
authors.lastname: Gusella
authors.forename: S A
authors.initials: SA
authors.lastname: Slaugenhaupt
mesh_terms: D000199:Actins / Q000235:genetics*; D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D015152:Blotting, Northern; D002874:Chromosome Mapping; D002875:Chromosomes / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D003001:Cloning, Molecular; D004247:DNA / Q000737:chemistry / Q000235:genetics / Q000302:isolation & purification; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics / Q000302:isolation & purification; D004402:Dysautonomia, Familial / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D006801:Humans; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D008969:Molecular Sequence Data; D009115:Muridae; D012313:RNA / Q000235:genetics / Q000378:metabolism; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D014018:Tissue Distribution
chemical_list: C120133:ACTL7A protein, human; C120135:ACTL7B protein, human; D000199:Actins; D018076:DNA, Complementary; D012313:RNA; D004247:DNA