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The DNA sequence and comparative analysis of human chromosome 5 总被引:1,自引:0,他引:1
Schmutz J Martin J Terry A Couronne O Grimwood J Lowry S Gordon LA Scott D Xie G Huang W Hellsten U Tran-Gyamfi M She X Prabhakar S Aerts A Altherr M Bajorek E Black S Branscomb E Caoile C Challacombe JF Chan YM Denys M Detter JC Escobar J Flowers D Fotopulos D Glavina T Gomez M Gonzales E Goodstein D Grigoriev I Groza M Hammon N Hawkins T Haydu L Israni S Jett J Kadner K Kimball H Kobayashi A Lopez F Lou Y Martinez D Medina C Morgan J Nandkeshwar R Noonan JP Pitluck S Pollard M Predki P 《Nature》2004,431(7006):268-274
Chromosome 5 is one of the largest human chromosomes and contains numerous intrachromosomal duplications, yet it has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of noncoding conservation with non-mammalian vertebrates, suggesting that they are functionally constrained. In total, we compiled 177.7 million base pairs of highly accurate finished sequence containing 923 manually curated protein-coding genes including the protocadherin and interleukin gene families. We also completely sequenced versions of the large chromosome-5-specific internal duplications. These duplications are very recent evolutionary events and probably have a mechanistic role in human physiological variation, as deletions in these regions are the cause of debilitating disorders including spinal muscular atrophy. 相似文献
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Martin J Han C Gordon LA Terry A Prabhakar S She X Xie G Hellsten U Chan YM Altherr M Couronne O Aerts A Bajorek E Black S Blumer H Branscomb E Brown NC Bruno WJ Buckingham JM Callen DF Campbell CS Campbell ML Campbell EW Caoile C Challacombe JF Chasteen LA Chertkov O Chi HC Christensen M Clark LM Cohn JD Denys M Detter JC Dickson M Dimitrijevic-Bussod M Escobar J Fawcett JJ Flowers D Fotopulos D Glavina T Gomez M Gonzales E Goodstein D Goodwin LA Grady DL Grigoriev I Groza M Hammon N Hawkins T 《Nature》2004,432(7020):988-994
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