Variable escape from X-chromosome inactivation: Identifying factors that tip the scales towards expression

被引:73
作者
Peeters, Samantha B. [1 ]
Cotton, Allison M. [1 ]
Brown, Carolyn J. [1 ]
机构
[1] Univ British Columbia, Dept Med Genet, Mol Epigenet Grp, Inst Life Sci, Vancouver, BC V5Z 1M9, Canada
关键词
allelic imbalance; boundary elements; dosage compensation; epigenetic marks; RNA-seq; waystations; XIST; EMBRYONIC STEM-CELLS; FACULTATIVE HETEROCHROMATIN FORMATION; DNA METHYLATION; XIST RNA; HISTONE H3; MAMMALIAN X; DOSAGE-COMPENSATION; LINKED GENES; ACTIVE-X; LYSINE-9; METHYLATION;
D O I
10.1002/bies.201400032
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
In humans over 15% of X-linked genes have been shown to escape from X-chromosome inactivation (XCI): they continue to be expressed to some extent from the inactive X chromosome. Mono-allelic expression is anticipated within a cell for genes subject to XCI, but random XCI usually results in expression of both alleles in a cell population. Using a study of allelic expression from cultured lymphoblasts and fibroblasts, many of which showed substantial skewing of XCI, we recently reported that the expression of genes lies on a contiunuum between those that are subject to inactivation, and those that escape. We now review allelic expression studies from mouse, and discuss the variability in escape seen in both humans and mice in genic expression levels, between X chromosomes and between tissues. We also discuss current knowledge of the heterochromatic features, DNA elements and three-dimensional topology of the inactive X that contribute to the balance of expression from the otherwise inactive X chromosome.
引用
收藏
页码:746 / 756
页数:11
相关论文
共 122 条
[1]   A cross-species comparison of escape from X inactivation in Eutheria: implications for evolution of X chromosome inactivation [J].
Al Nadaf, Shafagh ;
Deakin, Janine E. ;
Gilbert, Clement ;
Robinson, Terence J. ;
Graves, Jennifer A. M. ;
Waters, Paul D. .
CHROMOSOMA, 2012, 121 (01) :71-78
[2]   X chromosome-inactivation patterns of 1,005 phenotypically unaffected females [J].
Amos-Landgraf, James M. ;
Cottle, Amy ;
Plenge, Robert M. ;
Friez, Mike ;
Schwartz, Charles E. ;
Longshore, John ;
Willard, Huntington F. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 79 (03) :493-499
[3]   Variability of X chromosome inactivation:: effect on levels of TIMP1 RNA and role of DNA methylation [J].
Anderson, CL ;
Brown, CJ .
HUMAN GENETICS, 2002, 110 (03) :271-278
[4]   Molecular evidence for a relationship between LINE-1 elements and X chromosome inactivation: The Lyon repeat hypothesis [J].
Bailey, JA ;
Carrel, L ;
Chakravarti, A ;
Eichler, EE .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2000, 97 (12) :6634-6639
[5]   A MORPHOLOGICAL DISTINCTION BETWEEN NEURONES OF THE MALE AND FEMALE, AND THE BEHAVIOUR OF THE NUCLEOLAR SATELLITE DURING ACCELERATED NUCLEOPROTEIN SYNTHESIS [J].
BARR, ML ;
BERTRAM, EG .
NATURE, 1949, 163 (4148) :676-677
[6]   Escape from X inactivation in mice and humans [J].
Berletch, Joel B. ;
Yang, Fan ;
Disteche, Christine M. .
GENOME BIOLOGY, 2010, 11 (06)
[7]   SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation [J].
Blewitt, Marnie E. ;
Gendrel, Anne-Valerie ;
Pang, Zhenyi ;
Sparrow, Duncan B. ;
Whitelaw, Nadia ;
Craig, Jeffrey M. ;
Apedaile, Anwyn ;
Hilton, Douglas J. ;
Dunwoodie, Sally L. ;
Brockdorff, Neil ;
Kay, Graham F. ;
Whitelaw, Emma .
NATURE GENETICS, 2008, 40 (05) :663-669
[8]   Differentially methylated forms of histone H3 show unique association patterns with inactive human X chromosomes [J].
Boggs, BA ;
Cheung, P ;
Heard, E ;
Spector, DL ;
Chinault, AC ;
Allis, CD .
NATURE GENETICS, 2002, 30 (01) :73-76
[9]   A GENE FROM THE REGION OF THE HUMAN X-INACTIVATION CENTER IS EXPRESSED EXCLUSIVELY FROM THE INACTIVE X-CHROMOSOME [J].
BROWN, CJ ;
BALLABIO, A ;
RUPERT, JL ;
LAFRENIERE, RG ;
GROMPE, M ;
TONLORENZI, R ;
WILLARD, HF .
NATURE, 1991, 349 (6304) :38-44
[10]   THE HUMAN X-INACTIVATION CENTER IS NOT REQUIRED FOR MAINTENANCE OF X-CHROMOSOME INACTIVATION [J].
BROWN, CJ ;
WILLARD, HF .
NATURE, 1994, 368 (6467) :154-156