Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region

Eugenio Montini, Grazia Andolfi, Antonio Caruso, Georg Buchner, Susannah M. Walpole, Margherita Mariani, GianGiacomo Consalez, Dorothy Trump, Andrea Ballabio, Brunella Franco

Research output: Contribution to journalArticlepeer-review

Abstract

Eukaryotic protein kinases are part of a large and expanding family of proteins. Through our transcriptional mapping effort in the Xp22 region, we have isolated and sequenced the full-length transcript of STK9, a novel cDNA highly homologous to serine-threonine kinases. A number of human genetic disorders have been mapped to the region where STK9 has been localized including Nance-Horan (NH) syndrome, oral-facial-digital syndrome type 1 (OFD1), and a novel locus for nonsyndromic sensorineural deafness (DFN6). To evaluate the possible involvement of STK9 in any of the above-mentioned disorders, a 2416-bp full-length cDNA was assembled. The entire genomic structure of the gene, which is composed of 20 coding exons, was determined. Northern analysis revealed a transcript larger than 9.6 kb in several tissues including brain, lung, and kidney. The mouse homologue (Stk9) was identified and in the mouse mapped in the region syntenie to human Xp. This location is compatible with the location of the Xcat mutant, which shows congenital cataracts very similar to those observed in NH patients. Sequence homologies, expression pattern, and mapping information in both human and mouse make STK9 a candidate gene for the above-mentioned disorders.

Original languageEnglish
Pages (from-to)427-433
Number of pages7
JournalGenomics
Volume51
Issue number3
DOIs
Publication statusPublished - Aug 1 1998

ASJC Scopus subject areas

  • Genetics

Fingerprint

Dive into the research topics of 'Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region'. Together they form a unique fingerprint.

Cite this