scholarly journals X-Chromosome Genetic Association Test Accounting for X-Inactivation, Skewed X-Inactivation, and Escape from X-Inactivation

2014 ◽  
Vol 38 (6) ◽  
pp. 483-493 ◽  
Author(s):  
Jian Wang ◽  
Robert Yu ◽  
Sanjay Shete
Keyword(s):  
Genetic Association ◽  
X Chromosome ◽  
Association Test ◽  
X Inactivation ◽  
Genetic Association Test ◽  
Escape From X Inactivation ◽  
Skewed X Inactivation

X-chromosome genetic association test incorporating X-chromosome inactivation and imprinting effects

2019 ◽  
Vol 98 (4) ◽  
Author(s):  
Wei Liu ◽  
Bei-Qi Wang ◽  
Guojun Liu-Fu ◽  
Wing Kam Fung ◽  
Ji-Yuan Zhou
Keyword(s):  
Genetic Association ◽  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Association Test ◽  
Chromosome Inactivation ◽  
Genetic Association Test

scholarly journals X chromosome choice occurs independently of asynchronous replication timing

2005 ◽  
Vol 168 (3) ◽  
pp. 365-373 ◽  
Author(s):  
Joost Gribnau ◽  
Sandra Luikenhuis ◽  
Konrad Hochedlinger ◽  
Kim Monkhorst ◽  
Rudolf Jaenisch
Keyword(s):  
X Chromosome ◽  
Molecular Mechanisms ◽  
Replication Timing ◽  
S Phase ◽  
X Inactivation ◽  
Wild Type ◽  
Gene Deletions ◽  
Asynchronous Replication ◽  
Skewed X Inactivation

In mammals, dosage compensation is achieved by X chromosome inactivation in female cells. Xist is required and sufficient for X inactivation, and Xist gene deletions result in completely skewed X inactivation. In this work, we analyzed skewing of X inactivation in mice with an Xist deletion encompassing sequence 5 KB upstream of the promoter through exon 3. We found that this mutation results in primary nonrandom X inactivation in which the wild-type X chromosome is always chosen for inactivation. To understand the molecular mechanisms that affect choice, we analyzed the role of replication timing in X inactivation choice. We found that the two Xist alleles and all regions tested on the X chromosome replicate asynchronously before the start of X inactivation. However, analysis of replication timing in cell lines with skewed X inactivation showed no preference for one of the two Xist alleles to replicate early in S-phase before the onset of X inactivation, indicating that asynchronous replication timing does not play a role in skewing of X inactivation.

scholarly journals When the Lyon(ized chromosome) roars: ongoing expression from an inactive X chromosome

2017 ◽  
Vol 372 (1733) ◽  
pp. 20160355 ◽  
Author(s):  
Laura Carrel ◽  
Carolyn J. Brown
Keyword(s):  
X Chromosome ◽  
X Chromosome Inactivation ◽  
X Inactivation ◽  
Chromosome Inactivation ◽  
Sequencing Technologies ◽  
Inactive X Chromosome ◽  
Underlying Basis ◽  
Inactivation Process ◽  
Escape From X Inactivation ◽  
Mary Lyon

A tribute to Mary Lyon was held in October 2016. Many remarked about Lyon's foresight regarding many intricacies of the X-chromosome inactivation process. One such example is that a year after her original 1961 hypothesis she proposed that genes with Y homologues should escape from X inactivation to achieve dosage compensation between males and females. Fifty-five years later we have learned many details about these escapees that we attempt to summarize in this review, with a particular focus on recent findings. We now know that escapees are not rare, particularly on the human X, and that most lack functionally equivalent Y homologues, leading to their increasingly recognized role in sexually dimorphic traits. Newer sequencing technologies have expanded profiling of primary tissues that will better enable connections to sex-biased disorders as well as provide additional insights into the X-inactivation process. Chromosome organization, nuclear location and chromatin environments distinguish escapees from other X-inactivated genes. Nevertheless, several big questions remain, including what dictates their distinct epigenetic environment, the underlying basis of species differences in escapee regulation, how different classes of escapees are distinguished, and the roles that local sequences and chromosome ultrastructure play in escapee regulation. This article is part of the themed issue ‘X-chromosome inactivation: a tribute to Mary Lyon’.

scholarly journals A genetic association test through combining two independent tests

Genomics ◽  
2019 ◽  
Vol 111 (5) ◽  
pp. 1152-1159
Author(s):  
Zhongxue Chen ◽  
Qingzhong Liu ◽  
Kai Wang
Keyword(s):  
Genetic Association ◽  
Association Test ◽  
Genetic Association Test

scholarly journals X-Chromosome Inactivation and Escape from X Inactivation in Mouse

2018 ◽  
pp. 205-219
Author(s):  
Wenxiu Ma ◽  
Giancarlo Bonora ◽  
Joel B. Berletch ◽  
Xinxian Deng ◽  
William S. Noble ◽  
...  
Keyword(s):  
X Chromosome ◽  
X Chromosome Inactivation ◽  
X Inactivation ◽  
Chromosome Inactivation ◽  
Escape From X Inactivation

scholarly journals Combined haplotype relative risk (CHRR): a general and simple genetic association test that combines trios and unrelated case-controls

2009 ◽  
Vol 33 (1) ◽  
pp. 54-62 ◽  
Author(s):  
Chao-Yu Guo ◽  
Kathryn L. Lunetta ◽  
Anita L. DeStefano, ◽  
L. Adrienne Cupples
Keyword(s):  
Relative Risk ◽  
Genetic Association ◽  
Association Test ◽  
Genetic Association Test ◽  
Haplotype Relative Risk

scholarly journals A Multi-Marker Genetic Association Test Based on the Rasch Model Applied to Alzheimer’s Disease

PLoS ONE ◽  
2015 ◽  
Vol 10 (9) ◽  
pp. e0138223 ◽  
Author(s):  
Wenjia Wang ◽  
Jonas Mandel ◽  
Jan Bouaziz ◽  
Daniel Commenges ◽  
Serguei Nabirotchkine ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Genetic Association ◽  
Rasch Model ◽  
Association Test ◽  
Genetic Association Test ◽  
The Rasch Model
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