Defective myosin VIIA gene responsible for Usher syndrome type IB
Evidence is presented that a gene encoding myosin VIIA is responsible for USH1B and that USH IB appears as a primary cytoskeletal protein defect, which implicate the genes encoding other unconventional myosins and their interacting proteins as candidates for other genetic forms of Usher syndrome.
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.
- M. D. Weston, M. Luijendijk, K. Humphrey, C. Möller, W. Kimberling
- Biology, MedicineAmerican Journal of Human Genetics
- 1 February 2004
Denaturing high-performance liquid chromatography and direct sequencing of polymerase-chain-reaction products amplified from 10 genetically independent patients with USH2C and 156 other patients withUSH2 identified four isoform-specific VLGR1 mutations from three families with USh2C, as well as two sporadic cases.
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
Three biologically important mutations in Usher syndrome type IIa patients were identified in a gene (USH2A) isolated from this critical region of human chromosome 1q41 that has laminin epidermal growth factor and fibronectin type III motifs.
MicroRNA gene expression in the mouse inner ear
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
A mutation search of 57 independent USHIIa probands was performed with a combination of direct sequencing and heteroduplex analysis of PCR-amplified exons, and three new missense mutations were discovered; all were restricted to the previously unreported laminin domain VI region of Usherin.
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
- L. Astuto, J. M. Bork, W. Kimberling
- Medicine, BiologyAmerican Journal of Human Genetics
- 1 August 2002
Results of ophthalmologic examinations of the patients with nonsyndromic deafness have found asymptomatic RP-like manifestations, indicating that missense mutations may have a subtle effect in the retina.
Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.
Results provide conclusive evidence that the second-most-common subtype of Usher I is due to genes on chromosome 10, and they confirm the existence of oneUsher I gene in the previously defined USH1D region, as well as providing evidence for a second, and possibly a third, genes in the 10p/q region.
Isolation of a gene encoding a novel member of the nuclear receptor superfamily from the critical region of Usher syndrome type IIa at 1q41.
MicroRNA‐183 family expression in hair cell development and requirement of microRNAs for hair cell maintenance and survival
It is suggested that hair cell miRNAs subdue cochlear gradient gene expression and are required for hair cell maintenance and survival.
MicroRNA‐183 family conservation and ciliated neurosensory organ expression
- Marsha L. Pierce, M. D. Weston, Bernd Fritzsch, Harrison W. Gabel, G. Ruvkun, G. Soukup
- BiologyEvolution & Development
- 3 January 2008
The results suggest that miR‐183 family members contribute specifically to neurosensory development or function, and that extant metazoan sensory organs are derived from cells that share genetic programs of common evolutionary origin.