Phenotype-genotype correlations in hemophilia A carriers are consistent with the binary role of the phase between F8 and X-chromosome inactivation

2015 ◽  
Vol 13 (4) ◽  
pp. 530-539 ◽  
Author(s):  
C. P. Radic ◽  
L. C. Rossetti ◽  
M. M. Abelleyro ◽  
T. Tetzlaff ◽  
M. Candela ◽  
...  
Keyword(s):  
X Chromosome ◽  
Hemophilia A ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation

scholarly journals Role of De Novo DNA Methyltransferases in Initiation of Genomic Imprinting and X-Chromosome Inactivation

2004 ◽  
Vol 69 (0) ◽  
pp. 125-130 ◽  
Author(s):  
M. KANEDA ◽  
T. SADO ◽  
K. HATA ◽  
M. OKANO ◽  
N. TSUJIMOTO ◽  
...  
Keyword(s):  
Genomic Imprinting ◽  
X Chromosome ◽  
De Novo ◽  
Dna Methyltransferases ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation

scholarly journals Do LINEs Have a Role in X-Chromosome Inactivation?

2006 ◽  
Vol 2006 ◽  
pp. 1-6 ◽  
Author(s):  
Mary F. Lyon
Keyword(s):  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Current Evidence ◽  
X Chromosomes ◽  
Repeat Elements ◽  
Sequencing Project ◽  
Human Genome Sequencing ◽  
Human And Mouse

There is longstanding evidence that X-chromosome inactivation (XCI) travels less successfully in autosomal than in X-chromosomal chromatin. The interspersed repeat elements LINE1s (L1s) have been suggested as candidates for “boosters” which promote the spread of XCI in the X-chromosome. The present paper reviews the current evidence concerning the possible role of L1s in XCI. Recent evidence, accruing from the human genome sequencing project and other sources, confirms that mammalian X-chromosomes are indeed rich in L1s, except in regions where there are many genes escaping XCI. The density of L1s is the highest in the evolutionarily oldest regions. Recent work on X; autosome translocations in human and mouse suggested failure of stabilization of XCI in autosomal material, so that genes are reactivated, but resistance of autosomal genes to the original silencing is not excluded. The accumulation of L1s on the X-chromosome may have resulted from reduced recombination or late replication. Whether L1s are part of the mechanism of XCI or a result of it remains enigmatic.

scholarly journals DNA metylation as one of the main mechanisms of gene activity regulation

2004 ◽  
Vol 2 (1) ◽  
pp. 27-37
Author(s):  
Anna A Pendina ◽  
Vera V Grinkevich ◽  
Tatyana V Kuznetsova ◽  
Vladislav S Baranov
Keyword(s):  
Dna Methylation ◽  
Genomic Imprinting ◽  
X Chromosome ◽  
Epigenetic Inheritance ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Gene Repression ◽  
Activity Regulation ◽  
Inherited Diseases

 DNA methylation is one of the main mechanisms of epigenetic inheritance in eukaryotes. In this review we looked through the ways of 5-methylcytosin origin, it's distribution in genome, the mechanism of gene repression via hypermetilation, the role of metylation in genomic imprinting and in X-chromosome inactivation, in embryogenesis of mammals, in the processes of oncogenesis and in etiology of some common human inherited diseases

scholarly journals The role of Xist in the regulation of X chromosome inactivation

1998 ◽  
Vol 72 (1) ◽  
pp. 59-72
Author(s):  
COLETTE M. JOHNSTON ◽  
SARAH M. DUTHIE ◽  
STEVEN A. SHEARDOWN ◽  
ALISTAIR E. T. NEWALL ◽  
EMMA J. FORMSTONE ◽  
...  
Keyword(s):  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation

scholarly journals Role of the Chromosome Architectural Factor SMCHD1 in X-Chromosome Inactivation, Gene Regulation, and Disease in Humans

Genetics ◽  
2019 ◽  
Vol 213 (2) ◽  
pp. 685-703
Author(s):  
Chen-Yu Wang ◽  
Harrison Brand ◽  
Natalie D. Shaw ◽  
Michael E. Talkowski ◽  
Jeannie T. Lee
Keyword(s):  
Gene Regulation ◽  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Architectural Factor
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