Literature DB >> 9244435

Escape from X inactivation of two new genes associated with DXS6974E and DXS7020E.

T Esposito1, F Gianfrancesco, A Ciccodicola, M D'Esposito, R Nagaraja, R Mazzarella, M D'Urso, A Forabosco.   

Abstract

Most genes on the X chromosome undergo "inactivation," being transcribed from only one copy in female somatic cells, but several human genes have been shown to be expressed from both the active and the otherwise inactivated homologue. To assess further the fraction and location of genes that escape inactivation, we have analyzed the inactivation status of a set of 73 expressed sequence tags that were derived from the sequencing of cDNA collections and mapped to the X chromosome. Of 33 that were expressed in cultured cells, as assessed by reverse transcription and PCR, 4 (about 12%) were transcribed from both the active and the inactive X chromosome. Two, RPS4 and PCTAIRE1, are already known to escape inactivation; the other 2, of unknown function, include a short cDNA with a full open reading frame and a transcript with no detectable open reading frame. They map, respectively, to Xp11.3-p11.4 and Xp22.2; both regions were previously reported to encode sequences transcribed from the inactive X. Neither transcript has a corresponding sequence on the Y. Thus, they exhibit double dosage in females compared to males, and inactivation status may be inconsequential for these transcribed sequences.

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Year:  1997        PMID: 9244435     DOI: 10.1006/geno.1997.4797

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  8 in total

1.  Comparative sequence and x-inactivation analyses of a domain of escape in human xp11.2 and the conserved segment in mouse.

Authors:  Karen D Tsuchiya; John M Greally; Yajun Yi; Kevin P Noel; Jean-Pierre Truong; Christine M Disteche
Journal:  Genome Res       Date:  2004-06-14       Impact factor: 9.043

2.  Epigenetic stability, adaptability, and reversibility in human embryonic stem cells.

Authors:  Joshua D Tompkins; Christine Hall; Vincent Chang-yi Chen; Arthur Xuejun Li; Xiwei Wu; David Hsu; Larry A Couture; Arthur D Riggs
Journal:  Proc Natl Acad Sci U S A       Date:  2012-07-16       Impact factor: 11.205

3.  A first-generation X-inactivation profile of the human X chromosome.

Authors:  L Carrel; A A Cottle; K C Goglin; H F Willard
Journal:  Proc Natl Acad Sci U S A       Date:  1999-12-07       Impact factor: 11.205

4.  Polymorphic X-chromosome inactivation of the human TIMP1 gene.

Authors:  C L Anderson; C J Brown
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

5.  Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others.

Authors:  L Carrel; H F Willard
Journal:  Proc Natl Acad Sci U S A       Date:  1999-06-22       Impact factor: 11.205

6.  Chromosomal basis of X chromosome inactivation: identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation.

Authors:  A P Miller; H F Willard
Journal:  Proc Natl Acad Sci U S A       Date:  1998-07-21       Impact factor: 11.205

7.  Differential divergence of three human pseudoautosomal genes and their mouse homologs: implications for sex chromosome evolution.

Authors:  F Gianfrancesco; R Sanges; T Esposito; S Tempesta; E Rao; G Rappold; N Archidiacono; J A Graves; A Forabosco; M D'Urso
Journal:  Genome Res       Date:  2001-12       Impact factor: 9.043

8.  TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome.

Authors:  Holly Corbitt; Shaine A Morris; Claus H Gravholt; Kristian H Mortensen; Rebecca Tippner-Hedges; Michael Silberbach; Cheryl L Maslen
Journal:  PLoS Genet       Date:  2018-10-03       Impact factor: 5.917

  8 in total

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