Literature DB >> 9693033

Transcript map of a 900-kb genomic region in Xp22.1-p22.2: identification of 12 novel genes.

R Warneke-Wittstock1, A Marquardt, A Gehrig, C G Sauer, M Gessler, B H Weber.   

Abstract

The Xp22.1-p22.2 interval is a focus of interest as a number of hereditary disease loci have been mapped to this region, including X-linked nonsyndromic sensorineural deafness (DFN6), X-linked juvenile retinoschisis (RS), and several X-linked mental retardation syndromes. In the course of cloning the RS gene we have assembled YAC and PAC contigs of the 900-kb candidate region delimited by DXS418 and DXS999. In this study, we now report the construction of a first transcript map of this chromosomal interval by combining exon trapping, EST mapping, and computational gene identification methods. Overall, this strategy has led to the assembly of at least 12 novel transcripts positioned within the DXS418-DXS999 region, one of these encoding a putative protein kinase motif with significant homology to the rat p58/GTA protein kinase domain and another a putative neuronal protein with strong homology to a Drosophila transcriptional repressor. Copyright 1998 Academic Press.

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Year:  1998        PMID: 9693033     DOI: 10.1006/geno.1998.5382

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  2 in total

Review 1.  X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.

Authors:  Robert S Molday; Ulrich Kellner; Bernhard H F Weber
Journal:  Prog Retin Eye Res       Date:  2012-01-03       Impact factor: 21.198

2.  Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.

Authors:  Vera M Kalscheuer; Jiong Tao; Andrew Donnelly; Georgina Hollway; Eberhard Schwinger; Sabine Kübart; Corinna Menzel; Maria Hoeltzenbein; Niels Tommerup; Helen Eyre; Michael Harbord; Eric Haan; Grant R Sutherland; Hans-Hilger Ropers; Jozef Gécz
Journal:  Am J Hum Genet       Date:  2003-05-07       Impact factor: 11.025

  2 in total

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