Skewed X inactivation in healthy individuals and in different diseases

2006 ◽  
Vol 95 (0) ◽  
pp. 24-29 ◽  
Author(s):  
Karen Helene Ørstavik
Keyword(s):  
X Inactivation ◽  
Healthy Individuals ◽  
Skewed X Inactivation

Skewed X inactivation in Lesch–Nyhan disease carrier females

2017 ◽  
Vol 62 (12) ◽  
pp. 1079-1083 ◽  
Author(s):  
Rosa J Torres ◽  
Juan G Puig
Keyword(s):  
X Inactivation ◽  
Skewed X Inactivation

Skewed X Inactivation of the Normal Allele in Fully Mutated Female Carriers Determines the Levels of FMRP in Blood and the Fragile X Phenotype

2005 ◽  
Vol 9 (3) ◽  
pp. 157-162 ◽  
Author(s):  
Raquel Martínez ◽  
Victoria Bonilla-Henao ◽  
Antonio Jiménez ◽  
Miguel Lucas ◽  
Carmen Vega ◽  
...  
Keyword(s):  
Fragile X ◽  
X Inactivation ◽  
Normal Allele ◽  
Skewed X Inactivation ◽  
Female Carriers

scholarly journals Genetic Architecture of Skewed X Inactivation in the Laboratory Mouse

PLoS Genetics ◽  
2013 ◽  
Vol 9 (10) ◽  
pp. e1003853 ◽  
Author(s):  
John D. Calaway ◽  
Alan B. Lenarcic ◽  
John P. Didion ◽  
Jeremy R. Wang ◽  
Jeremy B. Searle ◽  
...  
Keyword(s):  
Genetic Architecture ◽  
Laboratory Mouse ◽  
X Inactivation ◽  
Skewed X Inactivation

scholarly journals Skewed X-inactivation is common in the general female population

2018 ◽  
Vol 27 (3) ◽  
pp. 455-465 ◽  
Author(s):  
Ekaterina Shvetsova ◽  
◽  
Alina Sofronova ◽  
Ramin Monajemi ◽  
Kristina Gagalova ◽  
...  
Keyword(s):  
X Inactivation ◽  
Female Population ◽  
Skewed X Inactivation

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.

Skewed X Inactivation in X-Linked Disorders

2001 ◽  
Vol 19 (02) ◽  
pp. 183-192 ◽  
Author(s):  
Ignatia B. Van den Veyver
Keyword(s):  
X Inactivation ◽  
Skewed X Inactivation
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