Biomedical subjects

R J Morell

Publications and source records attributed to R J Morell.

3 recordsLinked to original sources

PubMed2001

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.

Human chromosome 10q21-22 harbors USH1F in a region of conserved synteny to mouse chromosome 10. This region of mouse chromosome 10 contains Pcdh15, encoding a protocadherin gene that is mutated in ames waltzer and causes deafness and vestibular dysfunction. Here we report two mutations of protocadherin 15 (PCDH15) found in two families segregating Usher syndrome type 1F. A Northern blot probed with the PCDH15 cytoplasmic domain showed expression in the retina, consistent with its pathogenetic role in the retinitis pigmentosa associated with USH1F.

Aged↗

PubMed2000

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

Genes causing nonsyndromic autosomal recessive deafness (DFNB12) and deafness associated with retinitis pigmentosa and vestibular dysfunction (USH1D) were previously mapped to overlapping regions of chromosome 10q21-q22. Seven highly consanguineous families segregating nonsyndromic autosomal recessive deafness were analyzed to refine the DFNB12 locus. In a single family, a critical region was defined between D10S1694 and D10S1737, approximately 0.55 cM apart. Eighteen candidate genes in the region were sequenced. Mutations in a novel cadherin-like gene, CDH23, were found both in families with DFNB12 and in families with USH1D. Six missense mutations were found in five families with DFNB12, and two nonsense and two frameshift mutations were found in four families with USH1D. A northern blot analysis of CDH23 showed a 9.5-kb transcript expressed primarily in the retina. CDH23 is also expressed in the cochlea, as is demonstrated by polymerase chain reaction amplification from cochlear cDNA.

Alleles↗

PubMed1989

Glial processes, identified through their glial-specific 130 kD surface glycoprotein, are juxtaposed to sites of neurogenesis in the leech germinal plate.

Glial processes, bearing a unique 130 kD surface protein, are located at key sites of morphogenic movement and neuronal differentiation in the leech germinal plate. A midline glial fascicle resides at the primary axis of embryonic symmetry, alongside which teloblasts move as they generate their bandlets of stem cells. The n-bandlets straddle the midline glia and are known to produce most of the central neuroblasts. The midline glia then defasciculates as neuroblasts begin to aggregate into neuromeres. The defasciculated processes expand into these neuromeres, molding the future central neuropile. Neuroblasts will initiate primary axons toward the midline glia. As the neuromeres mature, midline glial process thin out to demarcate the orientation of the future connectives, which are the major longitudinal axon tracts along the midline. Next, segmental but still primordial glia appear in the neuromeres. Initially, they also project longitudinally, then transversely, demarcating the other two major axonal pathways--the central commissures and peripheral roots. Finally, macroglial processes proliferate as massive axon growth invades the central and peripheral nervous system. Thus, glial processes with different developmental histories accompany different aspects of leech neurogenesis. In other systems, glia have been shown to promote the differentiation and the guidance of neurons. It remains to be seen whether the glial-specific 130 kD protein is a receptor mediating these typical glial functions in the leech germinal plate.

Animals↗