Article
Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes.
Proceedings of the National Academy of Sciences of the United States of America - 15 Dec 1993
Migeon B R, Luo S, Stasiowski B A, Jani M, Axelman J, Van Dyke D L, Weiss L, Jacobs P A, Yang-Feng T L, Wiley J E
Abstract excerpt
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...
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