Chromosomal Basis of X Chromosome Inactivation: Identification of a Multigene Domain in Xp11.21-p11.22 that Escapes X Inactivation

A number of genes have been identified that escape mammalian X chromosome inactivation and are expressed from both active and inactive X chromosomes. The basis for escape from inactivation is unknown and, a priori, could be a result of local factors that act in a gene-specific manner or of chromosom...

Full description

Saved in:
Bibliographic Details
Published in:Proceedings of the National Academy of Sciences - PNAS 1998-07, Vol.95 (15), p.8709-8714
Main Authors: Miller, Andrew P., Willard, Huntington F.
Format: Article
Language:English
Subjects:
Animals
Biological Sciences
Chromosome Mapping
Chromosomes
Complementary DNA
DNA
Dosage Compensation, Genetic
Genes
Genetics
Genomics
Human X chromosome
Humans
Hybrid Cells
Hybridity
Mice
Molecular Sequence Data
Polymerase Chain Reaction
Transcription, Genetic
X Chromosome
X Chromosome inactivation
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:A number of genes have been identified that escape mammalian X chromosome inactivation and are expressed from both active and inactive X chromosomes. The basis for escape from inactivation is unknown and, a priori, could be a result of local factors that act in a gene-specific manner or of chromosomal control elements that act regionally. Models invoking the latter predict that such genes should be clustered in specific domains on the X chromosome, rather than distributed at random along the length of the X. To distinguish between these possibilities, we have constructed a transcription map composed of at least 23 distinct expressed sequences in an ≈ 5.5-megabase region on the human X chromosome spanning Xp11.21-p11.22. The inactivation status of these transcribed sequences has been determined in a somatic cell hybrid system and correlated with the position of the genes on the physical map. Although the majority of transcribed sequences in this region are subject to X inactivation, eight expressed sequences (representing at least six different genes) escape inactivation, and all are localized to within a region of less than 370 kb. Genes located both distal and proximal to this cluster are subject to inactivation, thereby defining a unique multigene domain on the proximal short arm that is transcriptionally active on the inactive X chromosome.
ISSN:0027-8424
1091-6490
DOI:10.1073/pnas.95.15.8709