Evans K L, Fantes J, Simpson C, Arveiler B, Muir W, Fletcher J, van Heyningen V, Steel K P, Brown K A, Brown S D
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.
Hum Mol Genet. 1993 Feb;2(2):115-8. doi: 10.1093/hmg/2.2.115.
Olfactory marker protein (OMP) shows olfactory neuron-specific expression in rodents. We recently reported tight linkage on mouse chromosome 7 of OMP to the shaker-1 deafness mutant, between the tyrosinase and globin loci. Here we isolate and map the human homologue. Our results show that OMP maps immediately centromeric to tyrosinase on the long arm of human chromosome 11. Genetic linkage to this region has recently been established for Usher Syndrome Type I, an autosomal recessive blindness and deafness disorder and a putative homologue of the shaker-1 mutant. OMP is thus a candidate gene for both congenital deafness defects.
嗅觉标记蛋白（OMP）在啮齿动物中表现出嗅觉神经元特异性表达。我们最近报道，在小鼠7号染色体上，OMP与酪氨酸酶和珠蛋白基因座之间的shaker-1耳聋突变体紧密连锁。在此，我们分离并定位了人类同源物。我们的结果表明，OMP定位于人类11号染色体长臂上酪氨酸酶着丝粒的紧邻位置。最近已确定该区域与I型Usher综合征存在遗传连锁，I型Usher综合征是一种常染色体隐性失明和失聪疾病，也是shaker-1突变体的一个假定同源物。因此，OMP是这两种先天性耳聋缺陷的候选基因。
