Familial cases of point mutations in the XIST promoter reveal a correlation between CTCF binding and pre-emptive choices of X chromosome inactivation

The choice mechanisms that determine the future inactive X chromosome in somatic cells of female mammals involve the regulated expression of the XIST gene. A familial C(−43)G mutation in the XIST promoter results in skewing of X chromosome inactivation (XCI) towards the inactive X chromosome of hete...

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Veröffentlicht in:	Human molecular genetics 2005-04, Vol.14 (7), p.953-965
Hauptverfasser:	Pugacheva, Elena M., Tiwari, Vijay Kumar, Abdullaev, Ziedulla, Vostrov, Alexander A., Flanagan, Patrick T., Quitschke, Wolfgang W., Loukinov, Dmitri I., Ohlsson, Rolf, Lobanenkov, Victor V.
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Animals Base Sequence Biological and medical sciences CCCTC-Binding Factor Cell Nucleus - metabolism Chromatin - metabolism Chromatin Immunoprecipitation Chromosomes, Human, X Deoxyribonuclease I - metabolism DNA Methylation DNA-Binding Proteins - genetics DNA-Binding Proteins - metabolism Dosage Compensation, Genetic Family Health Female Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Heterozygote Humans Immunoprecipitation Male Medicin och hälsovetenskap Mice Models, Genetic Molecular and cellular biology Molecular genetics Molecular Sequence Data Mutation Plasmids - metabolism Point Mutation Promoter Regions, Genetic Protein Binding Protein Biosynthesis Protein Conformation Protein Structure, Tertiary Repressor Proteins - genetics Repressor Proteins - metabolism RNA, Long Noncoding RNA, Untranslated - genetics Sequence Homology, Nucleic Acid Sex Factors Transcription, Genetic Transcription. Transcription factor. Splicing. Rna processing Zinc Fingers
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