Literature DB >> 7757075

The DXS423E gene in Xp11.21 escapes X chromosome inactivation.

C J Brown1, A P Miller, L Carrel, J L Rupert, K E Davies, H F Willard.   

Abstract

The DXS423E gene has been localized to Xp11.21 and is expressed in somatic cell hybrids retaining either the human active or inactive X chromosome, demonstrating that DXS423E escapes X chromosome inactivation. The XE169 (DXS1272E or SMCX) gene that escapes X chromosome inactivation is also located in Xp11.21-11.22 and maps within the same YAC as DXS423E. Thus the DXS423E and XE169 genes define a new region in the proximal short arm of the X chromosome that is not subject to X chromosome inactivation, supporting a regional basis for escape from inactivation.

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Year:  1995        PMID： 7757075     DOI： 10.1093/hmg/4.2.251

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


  20 in total

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Journal:  Eur J Hum Genet       Date:  2015-02-04       Impact factor: 4.246

4.  Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.

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Review 5.  Erasing the methyl mark: histone demethylases at the center of cellular differentiation and disease.

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Review 6.  Roles of the sister chromatid cohesion apparatus in gene expression, development, and human syndromes.

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Journal:  Chromosoma       Date:  2006-07-04       Impact factor: 4.316

7.  Expression of genes from the human active and inactive X chromosomes.

Authors:  C J Brown; L Carrel; H F Willard
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

8.  Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.

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Journal:  Hum Mol Genet       Date:  2008-11-07       Impact factor: 6.150

Review 9.  Cohesin and human disease.

Authors:  Jinglan Liu; Ian D Krantz
Journal:  Annu Rev Genomics Hum Genet       Date:  2008       Impact factor: 8.929

10.  ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation mice.

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Journal:  Nucleic Acids Res       Date:  2009-08-26       Impact factor: 16.971
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