A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene.
The identification of mouse models for the various forms of human neurosensory non-syndromic recessive deafness would constitute a major advance in the study of human deafness. Here we describe the localization of a human gene for neurosensory, nonsyndromic recessive deafness (NSRD2) to chromosome 11q13.5 by linkage analysis of a highly consanguineous family. A maximum lod score of 10.63 (theta = 0.018) was obtained for the microsatellite marker D11S527. Homozygosity mapping refined the localization of NSRD2 to a 6 cM interval also containing the olfactory marker protein (OMP) gene. The murine homologue of OMP is tightly linked to the autosomal recessive deafness gene sh-1. These results, and clinical data, suggest that NSRD2 is the human homologue of the mouse sh-1 gene.
Guilford
P
P
Unité de Génétique Moléculaire Humaine, Institut Pasteur, Paris, France.
Ayadi
H
H
Blanchard
S
S
Chaib
H
H
Le Paslier
D
D
Weissenbach
J
J
Drira
M
M
Petit
C
C
D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002880:Chromosomes, Human, Pair 11; D003241:Consanguinity; D004247:DNA / Q000097:blood / Q000235:genetics; D004276:DNA, Satellite / Q000235:genetics; D003638:Deafness / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008126:Lod Score; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics; D051842:Olfactory Marker Protein; D009838:Oligodeoxyribonucleotides; D010375:Pedigree; D012689:Sequence Homology, Nucleic Acid
D004276:DNA, Satellite; D005819:Genetic Markers; D009419:Nerve Tissue Proteins; C497597:OMP protein, human; D051842:Olfactory Marker Protein; D009838:Oligodeoxyribonucleotides; C497598:Omp protein, mouse; D004247:DNA