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Byrne JA Pedersen DA Clepper LL Nelson M Sanger WG Gokhale S Wolf DP Mitalipov SM 《Nature》2007,450(7169):497-502
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Crossan GP van der Weyden L Rosado IV Langevin F Gaillard PH McIntyre RE;Sanger Mouse Genetics Project Gallagher F Kettunen MI Lewis DY Brindle K Arends MJ Adams DJ Patel KJ 《Nature genetics》2011,43(2):147-152
The evolutionarily conserved SLX4 protein, a key regulator of nucleases, is critical for DNA damage response. SLX4 nuclease complexes mediate repair during replication and can also resolve Holliday junctions formed during homologous recombination. Here we describe the phenotype of the Btbd12 knockout mouse, the mouse ortholog of SLX4, which recapitulates many key features of the human genetic illness Fanconi anemia. Btbd12-deficient animals are born at sub-Mendelian ratios, have greatly reduced fertility, are developmentally compromised and are prone to blood cytopenias. Btbd12(-/-) cells prematurely senesce, spontaneously accumulate damaged chromosomes and are particularly sensitive to DNA crosslinking agents. Genetic complementation reveals a crucial requirement for Btbd12 (also known as Slx4) to interact with the structure-specific endonuclease Xpf-Ercc1 to promote crosslink repair. The Btbd12 knockout mouse therefore establishes a disease model for Fanconi anemia and genetically links a regulator of nuclease incision complexes to the Fanconi anemia DNA crosslink repair pathway. 相似文献
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Alföldi J Di Palma F Grabherr M Williams C Kong L Mauceli E Russell P Lowe CB Glor RE Jaffe JD Ray DA Boissinot S Shedlock AM Botka C Castoe TA Colbourne JK Fujita MK Moreno RG ten Hallers BF Haussler D Heger A Heiman D Janes DE Johnson J de Jong PJ Koriabine MY Lara M Novick PA Organ CL Peach SE Poe S Pollock DD de Queiroz K Sanger T Searle S Smith JD Smith Z Swofford R Turner-Maier J Wade J Young S Zadissa A Edwards SV Glenn TC Schneider CJ Losos JB Lander ES Breen M Ponting CP Lindblad-Toh K 《Nature》2011,477(7366):587-591
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. Among amniotes, genome sequences are available for mammals and birds, 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. 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. 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. 相似文献
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Inactivating mutations and overexpression of BCL10, a caspase recruitment domain-containing gene, in MALT lymphoma with t(1;14)(p22;q32). 总被引:23,自引:0,他引:23
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Sequence analysis of specific areas of the 16S and 23S ribosomal RNAs 总被引:18,自引:0,他引:18
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Nucleotide sequence of 5S-ribosomal RNA from Escherichia coli 总被引:24,自引:0,他引:24
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