Journal article
The Cloning and Developmental Expression of Unconventional Myosin IXA (MYO9A) a Gene in the Bardet–Biedl Syndrome (BBS4) Region at Chromosome 15q22–q23
Genomics (San Diego, Calif.), Vol.59(2), pp.150-160
07/15/1999
DOI: 10.1006/geno.1999.5867
PMID: 10409426
Abstract
Bardet–Biedl Syndrome (BBS) is a heterogeneous, autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, syndactyly and/or polydactyly, short stature, and hypogenitalism and is caused by mutations at a number of distinct loci. Using a positional cloning approach for identifying the BBS4 (chromosome 15) gene, we identified and cloned an unconventional myosin gene, myosin IXA (HGMW-approved symbol MYO9A). Since mutations in unconventional myosins are known to cause several human diseases, and since mutations of unconventional myosin VIIa cause retinal degeneration, we evaluated myosin IXA as a candidate for BBS. We exploited PCR-based techniques to clone a 8473-nt cDNA for myosin IXA. A 7644-bp open reading frame predicts a protein with all the hallmarks of class IX unconventional myosins. Human Northern blot analysis and in situ hybridization of mouse embryos reveal that myosin IXA is expressed in many tissues consistent with BBS. Intron/exon boundaries were identified, and myosin IXA DNA and RNA from BBS4 patients were evaluated for mutation.
Details
- Title: Subtitle
- The Cloning and Developmental Expression of Unconventional Myosin IXA (MYO9A) a Gene in the Bardet–Biedl Syndrome (BBS4) Region at Chromosome 15q22–q23
- Creators
- Susan W Gorman - Chiron Corporation, 4560 Horton Street, Emeryville, California, 94608Neena B Haider - Howard Hughes Medical Institute, Department of Pediatrics, University of Iowa, Iowa City, Iowa, 52242Uta Grieshammer - Chiron Corporation, 4560 Horton Street, Emeryville, California, 94608Ruth E Swiderski - Howard Hughes Medical Institute, Department of Pediatrics, University of Iowa, Iowa City, Iowa, 52242Esther Kim - Chiron Corporation, 4560 Horton Street, Emeryville, California, 94608Juliet W Welch - Chiron Corporation, 4560 Horton Street, Emeryville, California, 94608Charles Searby - Howard Hughes Medical Institute, Department of Pediatrics, University of Iowa, Iowa City, Iowa, 52242Song Leng - Chiron Corporation, 4560 Horton Street, Emeryville, California, 94608Rivka Carmi - Genetics Institute, Soroka Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, IsraelVal C Sheffield - Howard Hughes Medical Institute, Department of Pediatrics, University of Iowa, Iowa City, Iowa, 52242David M Duhl - Chiron Corporation, 4560 Horton Street, Emeryville, California, 94608
- Resource Type
- Journal article
- Publication Details
- Genomics (San Diego, Calif.), Vol.59(2), pp.150-160
- DOI
- 10.1006/geno.1999.5867
- PMID
- 10409426
- NLM abbreviation
- Genomics
- ISSN
- 0888-7543
- eISSN
- 1089-8646
- Publisher
- Elsevier Inc
- Language
- English
- Date published
- 07/15/1999
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9984065486202771
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