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  Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome

Borg, I., Freude, K., Kuebart, S., Hoffmann, K., Menzel, C., Laccone, F., et al. (2005). Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. European Journal of Human Genetics, 13(8), 921-927. doi:10.1038/sj.ejhg.5201429.

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Genre: Journal Article
Alternative Title : Europ. J. Hum. Gen.

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5201429a.pdf (Any fulltext), 195KB
 
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 Creators:
Borg, Isabella1, Author
Freude, Kristine1, Author
Kuebart, Sabine1, Author
Hoffmann, Kirsten1, Author
Menzel, Corinna1, Author
Laccone, Franco, Author
Firth, Helen, Author
Ferguson-Smith, Malcolm A., Author
Tommerup, Niels, Author
Ropers, Hans-Hilger2, Author           
Sargan, David, Author
Kalscheuer, Vera M.3, Author           
Affiliations:
1Max Planck Society, ou_persistent13              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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Free keywords: Rett syndrome Netrin G1 balanced chromosome rearrangement
 Abstract: We have identified a girl with characteristic features of Rett syndrome (RTT) who carries a de novo balanced translocation involving chromosomes 1 and 7. Both breakpoints were mapped by fluorescence in situ hybridization with selected genomic clones from the regions of interest. Southern blot hybridisations, utilizing probes derived from breakpoint spanning BACs, detected several aberrant fragments specific for the patient. Sequence analysis of the cloned junction fragment indicated that on chromosome 1 the predominantly brain-expressed Netrin G1 (NTNG1) gene is disrupted, whereas on chromosome 7 there was no indication for a truncated gene. The chromosome 1 breakpoint lies within the 3' part of NTNG1 and affects alternatively spliced transcripts, suggesting that the phenotype in this patient is the result of disturbed NTNG1 expression. In silico translation of the NTNG1 splice variants predicted protein isoforms with different C-termini: one membrane bound through a glycosylphosphatidylinositol anchor and the other soluble. The membrane-bound protein isoform would be affected by the breakpoint, whereas the soluble form would remain intact. Our results suggest that the central nervous system is sensitive to NTNG1 expression levels and that NTNG1 is a novel candidate disease gene for RTT.

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Language(s): eng - English
 Dates: 2005-05-04
 Publication Status: Issued
 Pages: -
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 Rev. Type: -
 Identifiers: eDoc: 268559
DOI: 10.1038/sj.ejhg.5201429
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Title: European Journal of Human Genetics
  Alternative Title : Europ. J. Hum. Gen.
Source Genre: Journal
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Pages: - Volume / Issue: 13 (8) Sequence Number: - Start / End Page: 921 - 927 Identifier: ISSN: 1018-4813