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The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB–binding protein
The recurrent translocation t(8;16)(p11 ;p13) is a cytogenetic hallmark for the M4/M5 subtype of acute myeloid leukaemia. Here we identify the breakpoint-associated genes. Positional cloning on… Expand
Global survey of escape from X inactivation by RNA-sequencing in mouse.
X inactivation equalizes the dosage of gene expression between the sexes, but some genes escape silencing and are thus expressed from both alleles in females. To survey X inactivation and escape in… Expand
The molecular basis of the human serum paraoxonase activity polymorphism
- R. Humbert, D. Adler, C. Disteche, C. Hassett, C. J. Omiecinski, C. Furlong
- Biology, Medicine
- Nature Genetics
The organophosphate cholinesterase inhibitor paraoxon is hydrolysed by serum paraoxonase/arylesterase. A genetic polymorphism of paraoxonase (PON) activity which determines high versus low paraoxon… Expand
Dosage compensation in mammals: fine-tuning the expression of the X chromosome.
Mammalian females have two X chromosomes and males have only one. This has led to the evolution of special mechanisms of dosage compensation. The inactivation of one X chromosome in females equalizes… Expand
CTCF physically links cohesin to chromatin
- E. Rubio, D. Reiss, +6 authors A. Krumm
- Biology, Medicine
- Proceedings of the National Academy of Sciences
- 17 June 2008
Cohesin is required to prevent premature dissociation of sister chromatids after DNA replication. Although its role in chromatid cohesion is well established, the functional significance of cohesin's… Expand
The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned
It is widely believed that most or all Y–chromosomal genes were once shared with the X chromosome. The DAZ gene is a candidate for the human Y–chromosomal Azoospermia Factor (AZF). We report multiple… Expand
Dosage compensation of the active X chromosome in mammals
Monosomy of the X chromosome owing to divergence between the sex chromosomes leads to dosage compensation mechanisms to restore balanced expression between the X and the autosomes. In Drosophila… Expand
Evidence for compensatory upregulation of expressed X-linked genes in mammals, Caenorhabditis elegans and Drosophila melanogaster
Many animal species use a chromosome-based mechanism of sex determination, which has led to the coordinate evolution of dosage-compensation systems. Dosage compensation not only corrects the… Expand
The amphiregulin gene encodes a novel epidermal growth factor-related protein with tumor-inhibitory activity.
We have isolated the gene for a novel growth regulator, amphiregulin (AR), that is evolutionarily related to epidermal growth factor (EGF) and transforming growth factor alpha (TGF-alpha). AR is a… Expand
Genes that escape from X inactivation
To achieve a balanced gene expression dosage between males (XY) and females (XX), mammals have evolved a compensatory mechanism to randomly inactivate one of the female X chromosomes. Despite this… Expand