The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23.

摘要: 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 caused mutations at number of distinct loci. Using positional cloning approach for identifying the BBS4 (chromosome 15) gene, we identified cloned an unconventional myosin IXA (HGMW-approved symbol MYO9A). Since in myosins are known to cause several human diseases, since VIIa retinal degeneration, evaluated as candidate BBS. We exploited PCR-based techniques clone 8473-nt cDNA IXA. A 7644-bp open reading frame predicts protein with all hallmarks class IX myosins. Human Northern blot analysis situ hybridization mouse embryos reveal that expressed many tissues consistent Intron/exon boundaries were identified, DNA RNA from patients mutation.