NDLI: Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes.

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Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Van Dyke, D. L. Jani, M. Yang-feng, T. L. Luo, S. Migeon, B. R. Stasiowski, B. A. Wiley, J. E. Axelman, J. Jacobs, P. A. Weiss, L.
Description	Author Affiliation: Migeon BR ( Center for Medical Genetics, Johns Hopkins University, Baltimore, MD 21287-3914.);
Abstract	The severe phenotype of human females whose karyotype includes tiny ring X chromosomes has been attributed to the inability of the small ring X chromosome to inactivate. The XIST locus is expressed only from the inactive X chromosome, resides at the putative X inactivation center, and is considered a prime player in the initiation of mammalian X dosage compensation. Using PCR, Southern blot analysis, and in situ hybridization, we have looked for the presence of the XIST locus in tiny ring X chromosomes from eight females who have multiple congenital malformations and severe mental retardation. Our studies reveal heterogeneity within this group; some rings lack the XIST locus, while others have sequences homologous to probes for XIST. However, in the latter, the locus is either not expressed or negligibly expressed, based on reverse transcription-PCR analysis. Therefore, what these tiny ring chromosomes have in common is a level of XIST transcription comparable to an active X. As XIST transcription is an indicator of X chromosome inactivity, the absence of XIST transcription strongly suggests that tiny ring X chromosomes in females with severe phenotypes are mutants in the X chromosome inactivation pathway and that the inability of these rings to inactivate is responsible for the severe phenotypes.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	24
Volume Number	90
Language	English
Publisher	National Academy of Sciences
Publisher Date	1993-01-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Hominidae Genetics Sex Chromosome Aberrations Sex Differentiation Turner Syndrome X Chromosome Adolescent Animals Child, Preschool Chromosome Mapping Genetic Markers In Situ Hybridization, Fluorescence Karyotyping Phenotype Polymerase Chain Reaction Research Support, U.S. Gov't, P.H.S. Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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