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© 1993 Oxford University Press

RESEARCH-ARTICLE

2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes

Ronald G. Lafrenlère, Carolyn J. Brown, Sue Rider1, Jamel Chelly1, Patricia Taillon-Miller2, A.Craig Chinault3, Anthony P. Monaco1 and Huntington F. Willard*

Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine 10900 Euclid Avenue, Cleveland, OH 44106, USA 1Imperial Cancer Research Fund Laboratories, Institute of Molecular Medicine, John Radcliffe Hospital Oxford OX3 9DU, UK 2Center for Genetics in Medicine, Washington University School of Medicine St Louis, MO 63130 3Institute for Molecular Genetics and Human Genome Center, Baylor College of Medicine Houston, TX 77030, USA

* To whom correspondence should be addressed

Received May 20, 1993; Revised June 11, 1993; Accepted June 11, 1993

X chromosome inactivation is a mechanism of dosage compensation that regulates the expression of mammalian X-linked genes between XY males and XX females. This phenomenon Is cis-acting, clonally heritable, and requires the presence of an X Inactivation center (XIC). In our attempts to characterize this phenomenon, we have focused on the physical organization of the human XIC localized to Xq13. From previous studies, we had determined that the candidate XIC Interval contained two loci (DXS128 and XIST) and was bound by the breakpoints of two structurally abnormal inactivated X chromosomes, a t(X; 14) and an idlc(Xp). Here we present a refined mapping of the XIC-containing region using the breakpoint of a late replicating rearranged X (rea(X)), and the initial characterization of a set of 40 yeast artificial chromosomes (YACs) derived from the XIC-containing region. These YACs form a 2.6 Mb contig which completely covers the XIC, and physically links the RPS4X, PHKA1, XIST, and DXS128E genes, as well as a laminin receptor pseudogene (LAMRP4). Furthermore, we have determined the relative orientations of these four genes, and have derived a restriction map of the region using the rare cutter enzymes BssHIl, Eagl, Mlul, Nrul, Sall, Sfll, Sstll (or Sacll), and Notl. We have Identified at least 9 CpG-rich Islands within this region, and have discovered a large (~125 kb) Inverted duplication proximal to the XIC based on symmetrical restriction patterns and homologous probes. We estimate the maximum size of the XIC-containing interval to be between 680 kb and 1200 kb, based on the localization of the breakpoints of the rearranged X chromosomes mentioned above. This lays the groundwork for the further characterization of the XIC region and the isolation of other expressed sequences therefrom.


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