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DNA deletion associated with hereditary neuropathy with liability to pressure palsies
The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB–binding protein
It is suggested that MOZ may represent a chromatin-associated acetyltransferase, and the possibility that a dominant MOZ–CBP fusion protein could mediate leukaemogenesis via aberrant chromatin acetylation is raised.
A comparative encyclopedia of DNA elements in the mouse genome
By comparing with the human genome, this work not only confirms substantial conservation in the newly annotated potential functional sequences, but also finds a large degree of divergence of sequences involved in transcriptional regulation, chromatin state and higher order chromatin organization.
Global survey of escape from X inactivation by RNA-sequencing in mouse.
It is estimated that mice have significantly fewer escape genes compared with humans, and escape genes are marked by the absence of trimethylation at lysine 27 of histone H3, a chromatin modification associated with genes subject to X inactivation, which is developmentally regulated for some mouse genes.
Down syndrome phenotypes: the consequences of chromosomal imbalance.
- J. Korenberg, X. Chen, C. Disteche
- Medicine, BiologyProceedings of the National Academy of Sciences…
- 24 May 1994
Evidence is provided for a significant contribution of genes outside the D21S55 region to the DS phenotypes, including the facies, microcephaly, short stature, hypotonia, abnormal dermatoglyphics, and mental retardation, which strongly suggests DS is a contiguous gene syndrome and augurs against a single DS chromosomal region responsible for most of the phenotypic features.
A Single-Cell Atlas of In Vivo Mammalian Chromatin Accessibility
The molecular basis of the human serum paraoxonase activity polymorphism
It is demonstrated that arginine at position 192 specifies high activity PON whereas a glutamine specifies the low activity variant, and that PON maps to chromosome 7q21–22, proximal to the cystic fibrosis gene, in agreement with previous genetic linkage studies.
The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned
Sequence analysis indicates that the Y–chromosomal DAZ cluster arose during primate evolution by transposing the autosomal gene to the Y, amplifying and pruning exons within the transposed gene and amplifying the modified gene.
Dosage compensation in mammals: fine-tuning the expression of the X chromosome.
The discovery and possible implications of a second form of dosage compensation in mammals that deals with the unique, potentially haploinsufficient, status of the X chromosome with respect to autosomal gene expression are reviewed.
CTCF physically links cohesin to chromatin
- E. Rubio, David J. Reiss, A. Krumm
- BiologyProceedings of the National Academy of Sciences
- 17 June 2008
Using a quantitative proteomics approach, it is shown that the STAG1 (Scc3/SA1) subunit of cohesin interacts with the CCTC-binding factor CTCF bound to the c-myc insulator element, suggesting an essential role for C TCF during sister chromatid cohesion.