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Sökning: WFRF:(Sanger Thomas)

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  • Raval, Aparna, et al. (författare)
  • Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia
  • 2007
  • Ingår i: Cell. - 0092-8674 .- 1097-4172. ; 129:5, s. 879-890
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>The heritability of B cell chronic lymphocytic leukemia (CLL) is relatively high; however, no predisposing mutation has been convincingly identified. We show that loss or reduced expression of <em>death-associated protein kinase 1</em> (<em>DAPK1</em>) underlies cases of heritable predisposition to CLL and the majority of sporadic CLL. Epigenetic silencing of <em>DAPK1</em> by promoter methylation occurs in almost all sporadic CLL cases. Furthermore, we defined a disease haplotype, which segregates with the CLL phenotype in a large family. <em>DAPK1</em> expression of the CLL allele is downregulated by 75% in germline cells due to increased HOXB7 binding. In the blood cells from affected family members, promoter methylation results in additional loss of <em>DAPK1</em> expression. Thus, reduced expression of <em>DAPK1</em> can result from germline predisposition, as well as epigenetic or somatic events causing or contributing to the CLL phenotype.</p>
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3.
  • Alfoeldi, Jessica, et al. (författare)
  • The genome of the green anole lizard and a comparative analysis with birds and mammals
  • 2011
  • Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 477:7366, s. 587-591
  • Tidskriftsartikel (refereegranskat)abstract
    • <p>The evolution of the amniotic egg was one of the great evolutionary innovations in the history of life, freeing vertebrates from an obligatory connection to water and thus permitting the conquest of terrestrial environments(1). Among amniotes, genome sequences are available for mammals and birds(2-4), but not for non-avian reptiles. Here we report the genome sequence of the North American green anole lizard, Anolis carolinensis. We find that A. carolinensis microchromosomes are highly syntenic with chicken microchromosomes, yet do not exhibit the high GC and low repeat content that are characteristic of avian microchromosomes(2). Also, A. carolinensis mobile elements are very young and diverse-more so than in any other sequenced amniote genome. The GC content of this lizard genome is also unusual in its homogeneity, unlike the regionally variable GC content found in mammals and birds(5). We describe and assign sequence to the previously unknown A. carolinensis X chromosome. Comparative gene analysis shows that amniote egg proteins have evolved significantly more rapidly than other proteins. An anole phylogeny resolves basal branches to illuminate the history of their repeated adaptive radiations.</p>
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