Mapping insertions, deletions and SNPs on Venter's chromosomes.
Mapping insertions, deletions and SNPs on Venter's chromosomes.
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DOI：
10.1371/journal.pone.0005972
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发表时间：
2009-06-22
期刊：
影响因子：
3.7
通讯作者：
Bernardi G
中科院分区：
文献类型：
--
作者：
Costantini M;Bernardi G
最近获得的完全测序的人类个体基因组是生物学的一次重大革命，它肯定会为遗传疾病和基因组重排提供新的见解。我们绘制了克雷格文特尔基因组中存在的插入、缺失和单核苷酸多态性（SNP），更准确地说是在17至22号染色体上，并将它们与人类参考基因组hg 17进行了比较。我们的研究结果表明，插入和缺失是几乎不存在的L1和L2等间距家族（GC-穷人L1+L2等间距代表略超过一半的人类基因组），而他们增加GC丰富的等间距，在很大程度上平行的基因，逆转录病毒整合和Alu序列的密度。插入/缺失的分布与SNP的分布形成鲜明对比，SNP在所有等容线家族中表现出几乎相同的密度，然而，在基因丰富的区域中具有较低浓度的趋势。我们的研究强烈地表明，插入/缺失的分布是由于染色质的结构，这是大多数开放的基因丰富，GC丰富的isochore，并在基因贫乏，GC贫乏isochore大部分关闭。插入/缺失和SNP的不同分布明显与两种不同的负责机制有关，即重组和点突变。
The very recent availability of fully sequenced individual human genomes is a major revolution in biology which is certainly going to provide new insights into genetic diseases and genomic rearrangements. We mapped the insertions, deletions and SNPs (single nucleotide polymorphisms) that are present in Craig Venter's genome, more precisely on chromosomes 17 to 22, and compared them with the human reference genome hg17. Our results show that insertions and deletions are almost absent in L1 and generally scarce in L2 isochore families (GC-poor L1+L2 isochores represent slightly over half of the human genome), whereas they increase in GC-rich isochores, largely paralleling the densities of genes, retroviral integrations and Alu sequences. The distributions of insertions/deletions are in striking contrast with those of SNPs which exhibit almost the same density across all isochore families with, however, a trend for lower concentrations in gene-rich regions. Our study strongly suggests that the distribution of insertions/deletions is due to the structure of chromatin which is mostly open in gene-rich, GC-rich isochores, and largely closed in gene-poor, GC-poor isochores. The different distributions of insertions/deletions and SNPs are clearly related to the two different responsible mechanisms, namely recombination and point mutations.
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影响因子：
7
作者：
Costantini, M;Clay, O;Bernardi, G
通讯作者：
Bernardi, G
影响因子：
4.5
作者：
Han, Kyudong;Lee, Jungnam;Batzer, Mark A.
通讯作者：
Batzer, Mark A.
影响因子：
3.7
作者：
Di Filippo, Miriam;Bernardi, Giorgio
通讯作者：
Bernardi, Giorgio
DOI：
10.1073/pnas.79.2.355
发表时间：
1982-01-01
期刊：
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES
影响因子：
--
作者：
MEUNIERROTIVAL, M;SORIANO, P;BERNARDI, G
通讯作者：
BERNARDI, G
影响因子：
64.8
作者：
Ley, Timothy J.;Mardis, Elaine R.;Ding, Li;Fulton, Bob;McLellan, Michael D.;Chen, Ken;Dooling, David;Dunford-Shore, Brian H.;McGrath, Sean;Hickenbotham, Matthew;Cook, Lisa;Abbott, Rachel;Larson, David E.;Koboldt, Dan C.;Pohl, Craig;Smith, Scott;Hawkins, Amy;Abbott, Scott;Locke, Devin;Hillier, LaDeana W.;Miner, Tracie;Fulton, Lucinda;Magrini, Vincent;Wylie, Todd;Glasscock, Jarret;Conyers, Joshua;Sander, Nathan;Shi, Xiaoqi;Osborne, John R.;Minx, Patrick;Gordon, David;Chinwalla, Asif;Zhao, Yu;Ries, Rhonda E.;Payton, Jacqueline E.;Westervelt, Peter;Tomasson, Michael H.;Watson, Mark;Baty, Jack;Ivanovich, Jennifer;Heath, Sharon;Shannon, William D.;Nagarajan, Rakesh;Walter, Matthew J.;Link, Daniel C.;Graubert, Timothy A.;DiPersio, John F.;Wilson, Richard K.
通讯作者：
Wilson, Richard K.