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  An integrated, functionally annotated gene map of the DXS8026- ELK1 interval on human Xp11.3-Xp11.23: Potential hotspot for neurogenetic disorders

Thiselton, D. L., McDowall, J., Brandau, O., Ramser, J., d'Esposito, F., Bhattacharya, S. S., et al. (2002). An integrated, functionally annotated gene map of the DXS8026- ELK1 interval on human Xp11.3-Xp11.23: Potential hotspot for neurogenetic disorders. Genomics, 79(4), 560-572.

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Genre: Journal Article
Alternative Title : Genomics

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 Creators:
Thiselton, D. L., Author
McDowall, J., Author
Brandau, O.1, Author           
Ramser, J., Author
d'Esposito, F., Author
Bhattacharya, S. S., Author
Ross, M. T., Author
Hardcastle, A. J., Author
Meindl, A., Author
Affiliations:
1Former Research Groups, Max Planck Institute of Biochemistry, Max Planck Society, ou_1565145              

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Free keywords: Xp11.3-Xp11.23; integrated gene map; in silico sequence analysis; functional annotation; ESTs; UniGene clusters; novel genes; pseudogenes; XLMR; neurogenetic disorders
 Abstract: 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.

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Language(s): eng - English
 Dates: 2002-04
 Publication Status: Issued
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: Peer
 Identifiers: eDoc: 39196
ISI: 000174744600017
 Degree: -

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Title: Genomics
  Alternative Title : Genomics
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 79 (4) Sequence Number: - Start / End Page: 560 - 572 Identifier: ISSN: 0888-7543