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

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*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

23 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)302-309
Number of pages8
JournalGenomics
Volume58
Issue number3
DOIs
StatePublished - Jun 15 1999

ASJC Scopus subject areas

  • Genetics

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