The causes and consequences of random and non‐random X chromosome inactivation in humans

CJ Brown, WP Robinson - Clinical genetics, 2000 - Wiley Online Library
X chromosome (X) inactivation is a remarkable biological process including the choice and
cis‐limited inactivation of one X, as well as the stable maintenance of this silencing by …

[HTML][HTML] The human inactive X chromosome modulates expression of the active X chromosome

AK San Roman, AK Godfrey, H Skaletsky, DW Bellott… - Cell genomics, 2023 - cell.com
The" inactive" X chromosome (Xi) has been assumed to have little impact, in trans, on the"
active" X (Xa). To test this, we quantified Xi and Xa gene expression in individuals with one …

Derivation of consensus inactivation status for X-linked genes from genome-wide studies

BP Balaton, AM Cotton, CJ Brown - Biology of sex differences, 2015 - Springer
Background X chromosome inactivation is the epigenetic silencing of the majority of the
genes on one of the X chromosomes in XX therian mammals. In humans, approximately …

X chromosome inactivation in clinical practice

KH Ørstavik - Human genetics, 2009 - Springer
X chromosome inactivation (XCI) is the transcriptional silencing of the majority of genes on
one of the two X chromosomes in mammalian females. Females are, therefore, mosaics for …

X chromosome regulation: diverse patterns in development, tissues and disease

X Deng, JB Berletch, DK Nguyen… - Nature Reviews …, 2014 - nature.com
Genes on the mammalian X chromosome are present in one copy in males and two copies
in females. The complex mechanisms that regulate the X chromosome lead to evolutionary …

Bipartite structure of the inactive mouse X chromosome

X Deng, W Ma, V Ramani, A Hill, F Yang, F Ay… - Genome biology, 2015 - Springer
Background In mammals, one of the female X chromosomes and all imprinted genes are
expressed exclusively from a single allele in somatic cells. To evaluate structural changes …

No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans

V Bolduc, P Chagnon, S Provost… - The Journal of …, 2007 - Am Soc Clin Investig
Skewing of X chromosome inactivation (XCI) can occur in normal females and increases in
tissues with age. The mechanisms underlying skewing in normal females, however, remain …

X chromosome dosage and the genetic impact across human tissues

M Viuff, A Skakkebæk, EB Johannsen, S Chang… - Genome Medicine, 2023 - Springer
Abstract Background Sex chromosome aneuploidies (SCAs) give rise to a broad range of
phenotypic traits and diseases. Previous studies based on peripheral blood samples have …

Evidence of influence of genomic DNA sequence on human X chromosome inactivation

Z Wang, HF Willard, S Mukherjee… - PLoS computational …, 2006 - journals.plos.org
A significant number of human X-linked genes escape X chromosome inactivation and are
thus expressed from both the active and inactive X chromosomes. The basis for escape from …

X-inactivation in female human embryonic stem cells is in a nonrandom pattern and prone to epigenetic alterations

Y Shen, Y Matsuno, SD Fouse, N Rao… - Proceedings of the …, 2008 - National Acad Sciences
X chromosome inactivation (XCI) is an essential mechanism for dosage compensation of X-
linked genes in female cells. We report that subcultures from lines of female human …