Scott D A, Greinwald J H, Marietta J R, Drury S, Swiderski R E, Viñas A, DeAngelis M M, Carmi R, Ramesh A, Kraft M L, Elbedour K, Skworak A B, Friedman R A, Srikumari Srisailapathy C R, Verhoeven K, Van Gamp G, Lovett M, Deininger P L, Batzer M A, Morton C C, Keats B J, Smith R J, Sheffield V C
Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242-1078, USA.
Gene. 1998 Jul 30;215(2):461-9. doi: 10.1016/s0378-1119(98)00316-3.
The DFNB7/11 locus for autosomal recessive non-syndromic hearing loss (ARNSHL) has been mapped to an approx. 1.5 Mb interval on human chromosome 9q13-q21. We have determined the cDNA sequence and genomic structure of a novel cochlear-expressed gene, ZNF216, that maps to the DFNB7/11 interval. The mouse orthologue of this gene maps to the murine dn (deafness) locus on mouse chromosome 19. The ZNF216 gene is highly conserved between human and mouse, and contains two regions that show homology to the putative zinc linger domains of other proteins. To determine it mutations in ZNF216 might be the cause of hearing loss at the DFNB7/11 locus, we screened the coding region of this gene in DFNB7/11 families by direct sequencing. No potential disease-causing mutations were found. In addition, Northern blot analysis showed no difference in ZNF216 transcript size or abundance between dn and control mice. These data Suggest that the ZNF216 gene is unlikely to be responsible for hearing loss at the DFNB7/11 and dn loci.
常染色体隐性非综合征性听力损失（ARNSHL）的DFNB7/11基因座已被定位到人类9号染色体q13-q21上一个约1.5 Mb的区间。我们已经确定了一个新的耳蜗表达基因ZNF216的cDNA序列和基因组结构，该基因定位于DFNB7/11区间。该基因的小鼠直系同源基因定位于小鼠19号染色体上的dn（耳聋）基因座。ZNF216基因在人和小鼠之间高度保守，并包含两个与其他蛋白质的假定锌指结构域具有同源性的区域。为了确定ZNF216中的突变是否可能是DFNB7/11基因座听力损失的原因，我们通过直接测序在DFNB7/11家系中筛选了该基因的编码区。未发现潜在的致病突变。此外，Northern印迹分析显示dn小鼠和对照小鼠之间ZNF216转录本大小或丰度没有差异。这些数据表明，ZNF216基因不太可能是DFNB7/11和dn基因座听力损失的原因。
