DNA sequence and analysis of human chromosome 8

Nusbaum, Chad; Mikkelsen, Tarjei S.; Zody, Michael C.; Asakawa, Shuichi; Taudien, Stefan; Garber, Manuel; Kodira, Chinnappa D.; Schueler, Mary G.; Shimizu, Atsushi; Whittaker, Charles A.; Chang, Jean L.; Cuomo, Christina A.; Dewar, Ken; FitzGerald, Michael G.; Yang, Xiaoping; Allen, Nicole; Anderson, Scott; Asakawa, Teruyo; Blechschmidt, Karin; Bloom, Toby; Borowsky, Mark; Butler, Jonathan; Cook, April; Corum, Benjamin; DeArellano, Kurt; DeCaprio, David; Dooley, Kathleen T; Dorris, Lester; Engels, Reinhard; Glöckner, Gernot; Hafez, Nabil; Hagopian, Daniel S.; Hall, Jennifer L.; Ishikawa, Sabine K.; Jaffe, David B.; Kamat, Asha; Kudoh, Jun; Lehmann, Rüdiger; Lokitsang, Tashi; Macdonald, Pendexter; Major, John E.; Matthews, Charles; Mauceli, Evan; Menzel, Uwe; Mihalev, Atanas; Minoshima, Shinsei; Murayama, Yuji; Naylor, Jerome; Nicol, Robert; Nguyen, Cindy M.; O'Leary, Sinéad B.; O'Neill, Keith; Parker, Stephen C. J.; Polley, Andreas; Raymond, Christina; Reichwald, Kathrin; Rodriguez, Joseph; Sasaki, Takashi; Schilhabel, Markus B.; Siddiqui, Ruby; Smith, Cherylyn L; Sneddon, Tam P.; Talamas, Jessica A.; Tenzin, Pema; Topham, Kerri; Venkataraman, Vijay; Wen, Gaiping; Yamazaki, Satoru; Young, Sarah; Zeng, Qiandong; Zimmer, Andrew; Rosenthal, André; Birren, Bruce W.; Platzer, Matthias; Shimizu, Nobuyoshi; Lander, Eric S.

doi:10.1038/nature04406

Cited by 110 publications

(92 citation statements)

References 32 publications

(31 reference statements)

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“…5 This region containing a number of genes related to the innate immunity and the nervous system shows a strikingly high polymorphic rate in the human population. 19 Recent studies found that the genes coding a-defensins 1 (DEFA1) and 3 (DEFA3) as well as b-defensins 2 (DEFB4), 3 (DEFB103) and 4 (DEFB104) exhibit copy number polymorphisms, while the DEFB1 gene was a single copy gene containing several SNPs. [20][21][22][23] The SNPs in DEFB1 have been associated with the pathogenesis of asthma and chronic obstructive pulmonary disease (COPD) as well as infectious disease.…”

Section: Introductionmentioning

confidence: 99%

Genomic variations within DEFB1 are associated with the susceptibility to and the fatal outcome of severe sepsis in Chinese Han population

Huang

et al. 2007

Genes Immun

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Sepsis is a systemic inflammatory response syndrome to infection. Human b-defensin 1 (DEFB1) is a multifunctional mediator in infection and inflammation, which has been largely explored in ex vivo studies. The present case-control study was designed to investigate whether DEFB1 genomic variations are associated with the susceptibility to and the outcome of severe sepsis in 211 patients with severe sepsis and 157 ethnic-matched healthy controls. After correcting for multiple testing, the À44G/C was the only polymorphism found to show significant associations with both the susceptibility to and the fatal outcome of severe sepsis (P ¼ 0.0049, odd ratio (OR) 1.971 and P ¼ 0.002, OR 2.406, respectively). Haplotype À20A/À44C/À52G showed a protective role against severe sepsis (P ¼ 0.0066, OR 0.6751), whereas haplotype À20G/À44G/À52G served as a risk factor for the fatal outcome of severe sepsis (P ¼ 0.0052, OR 2.427). These findings provide further evidence that b-defensin 1 may play a role in the pathogenesis of severe sepsis.

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Section: Introductionmentioning

confidence: 99%

Genomic variations within DEFB1 are associated with the susceptibility to and the fatal outcome of severe sepsis in Chinese Han population

Huang

et al. 2007

Genes Immun

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show abstract

“…However, considering that chromosome 8 contains approximately 800 genes [122] we deem it too simplistic to ascribe the functionally essential consequence of +8 to one extra copy of one single gene. The perhaps strongest argument against MYC as a target of +8 is the fact that it is down-regulated in trisomy 8-positive AMLs as ascertained by microarray analysis [123].…”

Section: Gene Dosage Effect?mentioning

confidence: 99%

Trisomy 8 as the sole chromosomal aberration in acute myeloid leukemia and myelodysplastic syndromes

Paulsson

Johansson

2007

Pathologie Biologie

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“…Likewise, this distal subregion on 8p shows an immense divergence between human and chimpanzee, suggesting that the high mutation rates at distal 8p have contributed to the evolution of the primate brain. 16 Interestingly, a high mutation rate has been associated with high homologous recombination in the human genome. 17 Consequently, an extraordinary recombination rate could increase the duplication genetic process, and allow us a better understanding of the biological connections between 8p, cancer and mental illness at a molecular level.…”

Section: Introductionmentioning

confidence: 99%

Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer

Tabarés‐Seisdedos

Rubenstein²

2009

Mol Psychiatry

216

157

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DNA sequence and analysis of human chromosome 8

Cited by 110 publications

References 32 publications

Genomic variations within DEFB1 are associated with the susceptibility to and the fatal outcome of severe sepsis in Chinese Han population

Genomic variations within DEFB1 are associated with the susceptibility to and the fatal outcome of severe sepsis in Chinese Han population

Trisomy 8 as the sole chromosomal aberration in acute myeloid leukemia and myelodysplastic syndromes

Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer

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