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  Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model

Innis, J. W., Mortlock, D., Chen, Z., Ludwig, M., Williams, M. E., Williams, T. M., et al. (2004). Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model. Human Molecular Genetics, 13(22), 2841-2851. doi:10.1093/hmg/ddh306.

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Datensatz-Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8789-5 Versions-Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-878A-3
Genre: Zeitschriftenartikel
Alternativer Titel : Hum Mol Gen

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 Urheber:
Innis, Jeffrey W., Autor
Mortlock, Douglas, Autor
Chen, Zhi, Autor
Ludwig, Michael, Autor
Williams, Melissa E., Autor
Williams, Thomas M., Autor
Doyle, Colleen D., Autor
Shao, Zhihong, Autor
Glynn, Michael, Autor
Mikulic, Davor, Autor
Lehmann, Katarina, Autor
Mundlos, Stefan1, Autor              
Utsch, Boris, Autor
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, escidoc:1433557              

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Schlagwörter: -
 Zusammenfassung: Polyalanine expansions in two of three large imperfect trinucleotide repeats encoded by the first exon of HOXA13 have been reported in hand–foot–genital syndrome (HFGS). Here we report additional families with expansions in the third repeat of 11 and 12 alanine residues, the latter being the largest expansion reported. We also report a patient with a novel, de novo 8-alanine expansion in the first large repeat. Thus, expansions in all three large HOXA13 polyalanine repeats can cause HFGS. To determine the molecular basis for impaired HOXA13 function, we performed homologous recombination in ES cells in mice to expand the size of the third largest polyalanine tract by 10 residues (HOXA13ALA28). Mutant mice were indistinguishable from Hoxa13 null mice. Mutant limb buds had normal steady-state Hoxa13 RNA expression, normal mRNA splicing and reduced levels of steady-state protein. In vitro translation efficiency of the HOXA13ALA28 protein was normal. Thus, loss of function is secondary to a reduction in the in vivo abundance of the expanded protein likely due to degradation.

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Sprache(n): eng - Englisch
 Datum: 2004-11
 Publikationsstatus: Im Druck publiziert
 Seiten: -
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: -
 Identifikatoren: eDoc: 228748
DOI: 10.1093/hmg/ddh306
 Art des Abschluß: -

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Titel: Human Molecular Genetics
  Alternativer Titel : Hum Mol Gen
Genre der Quelle: Zeitschrift
 Urheber:
Affiliations:
Ort, Verlag, Ausgabe: -
Seiten: - Band / Heft: 13 (22) Artikelnummer: - Start- / Endseite: 2841 - 2851 Identifikator: ISSN: 0964-6906