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Xist RNA has been established as the master regulator of X-chromosome inactivation (XCI) in female eutherian mammals, but its mechanism of action remains unclear. By creating novel Xist-inducible mutants at the endogenous locus...

XIST PRC1 PRC2 X-chromosome inactivation Chromatin Animals Female Histones Lysine Methylation Mice Models Genetic Mutation Polycomb-Group Proteins Protein Interaction Maps RNA Long Noncoding Repetitive Sequences Nucleic Acid Transcription Genetic X Chromosome X Chromosome Inactivation

During development, the precise relationships between transcription and chromatin modifications often remain unclear. We use the X chromosome inactivation (XCI) paradigm to explore the implication of chromatin changes in gene...

PRC1 PRC2 polycomb X Chromosome Inactivation XIST Embryonic Stem Cells epigenetics histone acetylation Histone deacetylase Acetylation Animals Chromatin Embryonic Stem Cells Epigenomics Female Gene Silencing Histone Deacetylases Histones Mice Polycomb-Group Proteins Protein Processing Post-Translational RNA Long Noncoding Transcription Genetic Ubiquitination X Chromosome X Chromosome Inactivation

X-chromosome inactivation is established during early development. In mice, transcriptional repression of the paternal X-chromosome (Xp) and enrichment in epigenetic marks such as H3K27me3 is achieved by the early blastocyst...

Animals Blastocyst Inner Cell Mass Epigenesis Genetic Female Genes X-Linked Histones In Situ Hybridization Fluorescence Male Mice Mice Inbred C57BL Mice Inbred DBA Models Genetic Pregnancy RNA Long Noncoding Sequence Analysis RNA Single-Cell Analysis Transcription Factors X Chromosome Inactivation

Alleles Animals Blastocyst Cell Differentiation dosage compensation Genetic Embryo Implantation Embryo Mammalian Embryonic Development Female Gene Expression Regulation Developmental Gene Knockout Techniques Gene Silencing Genes X-Linked Genomic Imprinting Kinetics Male Mice Inbred C57BL Mutation RNA Long Noncoding Sequence Analysis RNA Single-Cell Analysis Time Factors X Chromosome X Chromosome Inactivation

Biallelic mutations in AP5Z1 are known to cause a rare, autosomal recessive, complex form of hereditary spastic paraplegia (HSP) referred to as SPG48 (MIM#613647)[1]. To date, only 11 SPG48 cases have been reported. The clinical...

AP5Z1 SPG48 epileptic seizures hereditary spastic paraplegia rare disease spastic paraplegia 48 Whole exome sequencing Humans Mutation Pedigree Phenotype Rare Diseases Spastic Paraplegia Hereditary