| |  Online-Ressource |
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| Verfasst von: | Fukami, Maki [VerfasserIn]  |
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| | Kirsch, Stefan [VerfasserIn] |
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| | Wöginger, Simone [VerfasserIn] |
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| | Richter, Alexandra [VerfasserIn] |
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| | Benes, Vladimir [VerfasserIn] |
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| | Franco, Brunella [VerfasserIn] |
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| | Muroya, Koji [VerfasserIn] |
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| | Rao, Ercole [VerfasserIn] |
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| | Merker, Sabine [VerfasserIn] |
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| | Niesler, Beate [VerfasserIn] |
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| | Ballabio, Andrea [VerfasserIn] |
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| | Ansorge, Wilhelm [VerfasserIn] |
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| | Ogata, Tsutomu [VerfasserIn] |
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| | Rappold, Gudrun [VerfasserIn] |
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| Titel: | A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation |
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| Verf.angabe: | Maki Fukami, Stefan Kirsch, Simone Schiller, Alexandra Richter, Vladimir Benes, Brunella Franco, Koji Muroya, Ercole Rao, Sabine Merker, Beate Niesler, Andrea Ballabio, Wilhelm Ansorge, Tsutomu Ogata, and Gudrun A. Rappold |
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| E-Jahr: | 2000 |
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| Jahr: | 2000 Jul 20 |
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| Umfang: | 11 S. |
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| Teil: | volume:67 |
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| | year:2000 |
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| | number:3 |
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| | pages:563-573 |
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| | extent:11 |
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| Fussnoten: | Gesehen am 25.03.2021 |
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| Titel Quelle: | Enthalten in: The American journal of human genetics |
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| Ort Quelle: | New York, NY [u.a.] : Cell Press, 1949 |
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| Jahr Quelle: | 2000 |
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| Band/Heft Quelle: | 67(2000), 3, Seite 563-573 |
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| ISSN Quelle: | 1537-6605 |
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| Abstract: | X-linked nonspecific mental retardation (MRX) has a frequency of 0.15% in the male population and is caused by defects in several different genes on the human X chromosome. Genotype-phenotype correlations in male patients with a partial nullisomy of the X chromosome have suggested that at least one locus involved in MRX is on Xp22.3. Previous deletion mapping has shown that this gene resides between markers DXS1060 and DXS1139, a region encompassing ∼1.5 Mb of DNA. Analyzing the DNA of 15 males with Xp deletions, we were able to narrow this MRX critical interval to ∼15 kb of DNA. Only one gene, VCX-A (variably charged, X chromosome mRNA on CRI-S232A), was shown to reside in this interval. Because of a variable number of tandem 30-bp repeats in the VCX-A gene, the size of the predicted protein is 186-226 amino acids. VCX-A belongs to a gene family containing at least four nearly identical paralogues on Xp22.3 (VCX-A, -B, -B1, and -C) and two on Yq11.2 (VCY-D, VCY-E), suggesting that the X and Y copies were created by duplication events. We have found that VCX-A is retained in all patients with normal intelligence and is deleted in all patients with mental retardation. There is no correlation between the presence or absence of VCX-B1, -B, and VCX-C and mental status in our patients. These results suggest that VCX-A is sufficient to maintain normal mental development. |
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| DOI: | doi:10.1086/303047 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1287516/ |
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| | DOI: https://doi.org/10.1086/303047 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| K10plus-PPN: | 1752418670 |
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| Verknüpfungen: | → Zeitschrift |
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¬A¬ member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation / Fukami, Maki [VerfasserIn]; 2000 Jul 20 (Online-Ressource)
