Identification and Characterization of a Novel Serine– Threonine Kinase Gene from the Xp22 Region

doi:10.1006/geno.1998.5391

Genomics

Volume 51, Issue 3, 1 August 1998, Pages 427-433

https://doi.org/10.1006/geno.1998.5391 Get rights and content

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 9.5 kb in several tissues including brain, lung, and kidney. The mouse homologue (Stk9) was identified and mapped in the mouse in the region syntenic 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.

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Cited by (0)

^☆: Sequence data from this article have been deposited with the EMBL, GenBank, and DDBJ Data Libraries under Accession No. Y15057.

¹: Members of the Retinoschisis Consortium. Also included in the Consortium are J. T. den Dunnen, G.-J. van Ommen (Leiden, The Netherlands); A. A. Bergen (Amsterdam, The Netherlands); W. Berger, H. H. Ropers (Berlin, Germany); T. E. Darga, P. A. Sieving (Michigan, USA), T. Alitalo, A. De la Chapelle (Helsinki, Finland); and J. Yates (Cambridge, UK).

²: To whom correspondence should be addressed at Telethon Institute of Genetics and Medicine (TIGEM), San Raffaele Biomedical Science Park, Via Olgettina 58, 20132 Milan, Italy. Telephone: 011-39-2-21560202. Fax: 011-39-2-21560220. E-mail:[email protected].

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Regular ArticleIdentification and Characterization of a Novel Serine– Threonine Kinase Gene from the Xp22 Region☆

Abstract

Genomics

Genomics

Genomics

Drosophila

Hum. Mol. Genet.

A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22

Hum. Mol. Genet.

The oral–facial–digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2–Xp22.3

Hum. Mol. Genet.

A novel phenotypic pattern in X-linked inheritance: Craniofrontonasal syndrome maps to Xp22

Hum. Mol. Genet.

An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3–Xp21.3

Hum. Mol. Genet.

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

Nature

The eukaryotic protein kinase superfamily: Kinase (catalytic) domain structure and classification

FASEB J.

Peutz-Jeghers sundrome is caused by mutations in a novel serine threonine kinase

Nat. Genet.

Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs

Nucleic Acids Res.

Regular Article
Identification and Characterization of a Novel Serine– Threonine Kinase Gene from the Xp22 Region☆