Human chromosome 7 circa 2004: a model for structural and functional studies of the human genome.
Human chromosome 7 circa 2004: a model for structural and functional studies of the human genome.
复制标题
大约 2004 年人类 7 号染色体：人类基因组结构和功能研究的模型。
DOI：
10.1093/hmg/ddh231
复制
发表时间：
2004
影响因子：
3.5
通讯作者：
Green,EricD
中科院分区：
文献类型：
--
作者：
Scherer,StephenW;Green,EricD
人类7号染色体可以说是人类基因组中最全面表征的片段之一。通过显微镜检查，它属于中等大小的C组亚中着丝粒类，涉及染色体长度测量的历史研究估计它占人类基因组的160 Mb（或160 Mb）。 早期在分子遗传学上的成功导致了一些生物医学上重要基因的鉴定，包括T细胞受体和同源盒家族以及促红细胞生成素和囊性纤维化基因。人类基因组计划带来了7号染色体特异性和全基因组倡议，产生了丰富的基因组资源，揭示了350多个疾病相关基因的存在。已经产生了两个不同的7号染色体序列的组件，一个主要是基于映射的大插入克隆和其他基于集成的全基因组鸟枪测序策略。这两个序列基本上是相同的（<1%的差异），并且都估计7号染色体的单位长度刚刚超过158 Mb，与最初预测的大小非常相似。 系统注释工作已经锚定到序列，在许多特征中，超过900个已知基因和大约1000个其他基因结构，以及在具有特征性表型差异的患者中鉴定的超过650个染色体断裂点。7号染色体也被证明在人类基因组中含有最高含量的常染色体内节段复制。7号染色体的大约22 Mb的正向区域目前正在多个其他脊椎动物物种中测序。检查这些比较序列数据，结合其他积累有关这些区域和染色体其余部分的基因组信息，应该为下一代人类基因组的结构和功能分析提供模型。
Human chromosome 7 is arguably amongst the most comprehensively characterized segments of the human genome. By microscopic examination, it belongs to the medium-sized group C submetacentric class, and historical studies involving chromosome-length measurements estimated that it accounts for ∼5.3% of the human genome (or 160 Mb). Early successes in molecular genetics led to the identification of some of its biomedically important genes, including the T-cell receptor and homeobox families as well as the erythropoietin and cystic fibrosis genes. The Human Genome Project brought chromosome 7-specific and genome-wide initiatives, generating a wealth of genomic resources that have revealed the presence of over 350 disease-associated genes. Two distinct assemblies of the chromosome 7 sequence have been generated—one based largely on mapped large-insert clones and the other based on an integrated whole-genome shotgun sequencing strategy. These two sequences are mainly identical (<1% difference), and both estimate the unit length of chromosome 7 to be just over 158 Mb, remarkably similar to the originally predicted size. Systematic annotation efforts have anchored to the sequence, amongst many features, over 900 known genes and some 1000 other gene structures, as well as over 650 chromosomal breakpoints identified in patients with characterized phenotypic differences. Chromosome 7 has also been shown to contain the highest content of intra-autosomal segmental duplications in the human genome. The orthologous regions of roughly 22 Mb of chromosome 7 are currently being sequenced in multiple other vertebrate species. Examining these comparative sequence data, in conjunction with the other accumulating genomic information about these regions and the rest of the chromosome, should provide a model for the next generation of structural and functional analyses of the human genome.
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DOI：
10.1073/pnas.95.14.8141
发表时间：
1998-07-07
影响因子：
11.1
作者：
Mishmar, D;Rahat, A;Kerem, B
通讯作者：
Kerem, B
1994 年第二届人类 7 号染色体图谱国际研讨会报告。
DOI：
--
发表时间：
1995
期刊：
Cytogenetics and Cell Genetics
影响因子：
--
作者：
L. Tsui;H. Donis;K. Grzeschik
通讯作者：
K. Grzeschik
用于囊性纤维化基因克隆的 7 号染色体上 DNA 标记的鉴定和区域定位。
影响因子：
9.8
作者：
J. Rommens;S. Zengerling;Julie E. Burns;Georg Melmer;B. Kerem;N. Plavsic;M. Zsiga;D. Kennedy;D. Markiewicz;R. Rozmahel;John R. Riordan;Manuel Buchwald;Lap
通讯作者：
Lap
DOI：
10.1073/pnas.84.22.8006
发表时间：
1987-11-01
影响因子：
11.1
作者：
BARKER, D;GREEN, P;DONISKELLER, H
通讯作者：
DONISKELLER, H
影响因子：
10.5
作者：
Robledo, RF;Rajan, L;Lufkin, T
通讯作者：
Lufkin, T