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ABSTRACT To investigate X-chromosome inactivation (XCI) in human trophoblasts during early pregnancy, tropho-blast genomic DNA was extracted and analyzed for a _Bst XI_ restriction
endonuclease site polymorphism in the X-linked phosphoglycerate kinase gene, after digestion with methylation-sensitive _Hpa II_ (control samples were digested instead with _Afa I_). Six
villous trophoblast DNA samples were informative for the polymorphism (ie, heterozygous) and were derived from women homozygous for the polymorphism. These samples were then evaluated for
XCI. In five of the six samples with _Hpa II_ predigestion, the sizes of the two heterozygous band peaks differed; maternal X-chromosome (XM)-derived alleles showed smaller peak sizes than
paternal X-chromosome (XP)-derived alleles, but the differences varied in degree. In samples obtained by microdissection from formalin-fixed, paraffin-embedded tissues (30 samples from
different anchoring villi, and 38 samples from different branch villi), monoclonal band patterns of XP-derived alleles were observed more frequently than those of XM-derived alleles, but
almost half of the samples showed polyclonal pat-terns. Our results suggest that a skewing of XCI exists in the human trophoblast; however, the degree of non-randomness due to predominant XP
inactivation appears to be restricted. It is probable that transcription of the X inactivation center (_XIC_) begins earlier in mice than in humans. SIMILAR CONTENT BEING VIEWED BY OTHERS
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Department of Obstetrics and Gynecology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan Tel. +81-22-717-7251; Fax +81-22-717-7258 e-mail:
[email protected], Japan S. Uehara, M. Tamura, N. Yaegashi, K. Okamura & A. Yajima * Department of Forensic Medicine, Tohoku University School of Medicine, Sendai 980-8574,
Japan, Japan M. Nata & G. Ji Authors * S. Uehara View author publications You can also search for this author inPubMed Google Scholar * M. Tamura View author publications You can also
search for this author inPubMed Google Scholar * M. Nata View author publications You can also search for this author inPubMed Google Scholar * G. Ji View author publications You can also
search for this author inPubMed Google Scholar * N. Yaegashi View author publications You can also search for this author inPubMed Google Scholar * K. Okamura View author publications You
can also search for this author inPubMed Google Scholar * A. Yajima View author publications You can also search for this author inPubMed Google Scholar ADDITIONAL INFORMATION Received:
October 14, 1999 / Accepted: December 3, 1999 RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Uehara, S., Tamura, M., Nata, M. _et al._ X-chromosome
inactivation in the human trophoblast of early pregnancy. _J Hum Genet_ 45, 119–126 (2000). https://doi.org/10.1007/s100380050197 Download citation * Published: 01 May 2000 * Issue Date: May
2000 * DOI: https://doi.org/10.1007/s100380050197 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content: Get shareable link Sorry, a shareable link
is not currently available for this article. Copy to clipboard Provided by the Springer Nature SharedIt content-sharing initiative * Key words Extra-embryonic tissue * Methylation-sensitive
endonuclease * Phosphoglycerate kinase * RFLP * Skewing of X-chromosome inactivation