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          Institute: MPI für Biochemie     Collection: Molecular Medicine (R. Fässler)     Display Documents

ID: 39196.0, MPI für Biochemie / Molecular Medicine (R. Fässler)
An integrated, functionally annotated gene map of the DXS8026- ELK1 interval on human Xp11.3-Xp11.23: Potential hotspot for neurogenetic disorders
Authors:Thiselton, D. L.; McDowall, J.; Brandau, O.; Ramser, J.; d'Esposito, F.; Bhattacharya, S. S.; Ross, M. T.; Hardcastle, A. J.; Meindl, A.
Date of Publication (YYYY-MM-DD):2002-04
Title of Journal:Genomics
Journal Abbrev.:Genomics
Issue / Number:4
Start Page:560
End Page:572
Review Status:Peer-review
Audience:Not Specified
Abstract / Description:Human chromosome Xp11.3-Xp11.23 encompasses the map location for a growing number of diseases with a genetic basis or genetic component. These include several eye disorders, syndromic and nonsyndromic forms of X-linked mental retardation (XLMR), X-linked neuromuscular diseases and susceptibility loci for schizophrenia, type 1 diabetes, and Graves' disease. We have constructed an similar to 2.7-Mb high-resolution physical map extending from DXS8026 to ELK1, corresponding to a genetic distance of similar to 5.5 cM. A combination of chromosome walking and sequence-tagged site (STS)-content mapping resulted in an integrated framework and transcript map, precisely positioning 10 polymorphic microsatellites (one of which is novel), 16 ESTs, and 12 known genes (RP2, PCTK1, UHX1, UBE1, RBM10, ZNF157, SYN1, ARAF1, TIMP1, PFC, ELK1, UXT). The composite map is currently anchored with 89 STSs to give an average resolution of similar to 1 STS every 30 kb. By a combination of EST database searches and in silico detection of UniGene clusters within genomic sequence generated from this template map, we have mapped several novel genes within this interval: a Na+/H+ exchanger (SLC9A7), at least two zinc-finger transcription factors (KLkA0215 and Hs.68318), carbohydrate sulfotransferase-7 (CHST7), regucalcin (RGN), inactivation- escape-1 (INE1), the human ortholog of mouse neuronal protein 15.6, and four putative novel genes. Further genomic analysis enabled annotation of the sequence interval with 20 predicted pseudogenes and 21 UniGene clusters of unknown function. The combined PAC/BAC transcript map and YAC scaffold presented here clarifies previously conflicting data for markers and genes within the Xp11.3-Xp11.23 interval and provides a powerful integrated resource for functional characterization of this clonally unstable, yet gene-rich and clinically significant region of proximal Xp.
Free Keywords:Xp11.3-Xp11.23; integrated gene map; in silico sequence analysis; functional annotation; ESTs; UniGene clusters; novel genes; pseudogenes; XLMR; neurogenetic disorders
Comment of the Author/Creator:Date: 2002, APR
External Publication Status:published
Document Type:Article
Communicated by:N.N.
Affiliations:MPI für Biochemie/Molecular Medicine (R. Fässler)
External Affiliations:Virginia Commonwealth Univ, Dept Psychiat, Virginia Inst; Psychiat & Behav Genet, Med Coll Virginia Campus, Richmond, VA; 23298 USA; Univ Coll London, Inst Ophthalmol, Dept Mol Genet, London EC1V 9EL, England; Sanger Ctr, Cambridge CB10 1SA, England
Identifiers:ISI:000174744600017 [ID No:1]
ISSN:0888-7543 [ID No:2]
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