Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familiar dysautonomia candidate region on 9q31

Two novel human actin-like genes, ACTL7A and ACTL7B, were identified by cDN A selection and direct genomic sequencing from the familial dysautonomia ca ndidate region on 9q31. ACTL7A encodes a 435-amino-acid protein (predicted molecular mass 48.6 kDa) and ACTL7B encodes a 415-amino-acid protein (predi cted molecular mass 45.2 kDa) that show greater than 65% amino acid identit y to each other. Genomic analysis revealed ACTL7A and ACTL7B to be intronle ss genes contained on a common 8-kb HindIII fragment in a "head-to-head" or ientation. The murine homologues were cloned and mapped by linkage analysis to mouse chromosome 4 in a region of gene order conserved with human chrom osome 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, ge nomic rearrangements, or differences in expression were detected for either gene in familial dysautonomia patients. (C) 1999 Academic Press.