Spread of X inactivation on chromosome 15 is associated with a more severe phenotype in a girl with an unbalanced t(X; 15) translocation

2014 ◽  
Vol 164 (10) ◽  
pp. 2521-2528 ◽  
Author(s):  
KS Yeung ◽  
YY Chee ◽  
HM Luk ◽  
Anita SY Kan ◽  
Mary HY Tang ◽  
...  
Keyword(s):  
X Inactivation ◽  
Chromosome 15 ◽  
Severe Phenotype

An N-Ethyl-N-Nitrosourea Mutagenesis Screen for Epigenetic Mutations in the Mouse

Genetics ◽  
2003 ◽  
Vol 164 (4) ◽  
pp. 1481-1494
Author(s):  
Ivona Percec ◽  
Joanne L Thorvaldsen ◽  
Robert M Plenge ◽  
Christopher J Krapp ◽  
Joseph H Nadeau ◽  
...  
Keyword(s):  
Genomic Imprinting ◽  
X Chromosome ◽  
X Inactivation ◽  
Monoallelic Expression ◽  
Chromosome 15 ◽  
Chromosome 5 ◽  
Chromosome 10 ◽  
Mutagenesis Screen ◽  
Distal Chromosome ◽  
Males And Females

Abstract The mammalian epigenetic phenomena of X inactivation and genomic imprinting are incompletely understood. X inactivation equalizes X-linked expression between males and females by silencing genes on one X chromosome during female embryogenesis. Genomic imprinting functionally distinguishes the parental genomes, resulting in parent-specific monoallelic expression of particular genes. N-ethyl-N-nitrosourea (ENU) mutagenesis was used in the mouse to screen for mutations in novel factors involved in X inactivation. Previously, we reported mutant pedigrees identified through this screen that segregate aberrant X-inactivation phenotypes and we mapped the mutation in one pedigree to chromosome 15. We now have mapped two additional mutations to the distal chromosome 5 and the proximal chromosome 10 in a second pedigree and show that each of the mutations is sufficient to induce the mutant phenotype. We further show that the roles of these factors are specific to embryonic X inactivation as neither genomic imprinting of multiple genes nor imprinted X inactivation is perturbed. Finally, we used mice bearing selected X-linked alleles that regulate X chromosome choice to demonstrate that the phenotypes of all three mutations are consistent with models in which the mutations have affected molecules involved specifically in the choice or the initiation of X inactivation.

Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern

1997 ◽  
Vol 100 (2) ◽  
pp. 256-262 ◽  
Author(s):  
D. J. Wolff ◽  
Karen M. Gustashaw ◽  
Vickie Zurcher ◽  
Lara Ko ◽  
Wendy White ◽  
...  
Keyword(s):  
X Inactivation ◽  
Severe Phenotype ◽  
Inactivation Pattern

Syntenic assignment of CD3G to bovine chromosome 15

1999 ◽  
Vol 30 (1) ◽  
pp. 67-68
Author(s):  
M. R. V. Amarante ◽  
C. R. Lopes ◽  
J. E. Womack
Keyword(s):  
Bovine Chromosome ◽  
Chromosome 15
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