Evolution of Chromosome-specific Low Copy Repeats
染色体特异性低拷贝重复的进化
基本信息
- 批准号:6689554
- 负责人:
- 金额:$ 24.99万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2002
- 资助国家:美国
- 起止时间:2002-01-01 至 2005-12-31
- 项目状态:已结题
- 来源:
- 关键词:Pananimal genetic material tagbaboonsbiochemical evolutionchromosome aberrationschromosomescomparative genomic hybridizationfluorescent in situ hybridizationgene duplicationgene rearrangementgenetic disordergenetic polymorphismhuman genetic material tagpolymerase chain reactionpopulation geneticsrestriction mappingsouthern blotting
项目摘要
DESCRIPTION (provided by applicant): Large scale duplication of genetic
material is a major force driving the evolution of genetic diversity. Gene
duplication and subsequent divergence have been instrumental in the creation of
new genes with specialized functional roles, a process that has been important
for the creation of evolutionary diversity and speciation. The accumulating
sequence of the human genome has revealed a class of genomic duplications that
are chromosome-specific. Interestingly, these chromosome-specific sequence
duplications or low copy repeats (LCRs) have been implicated in a number of
human genetic disorders that are associated with recurrent genomic
rearrangements. It has been proposed that illegitimate recombination
facilitated by the highly homologous duplicated sequences give rise to
deletions, duplications and inversions. Chromosome-specific LCRs on human
chromosome 22q11 have been implicated in various constitutional rearrangements
leading to genetic disease. Although the human 22q11 LCRs have been sequenced,
very little is known about their evolution and amplification in the genome.
Comparative analysis of the mouse genome has revealed an absence of LCRs at the
orthologous loci. Examination of the 22q11 LCRs in non-human primates suggests
that they have originated and evolved during primate evolution. We wish to
investigate the mechanism responsible for chromosome-specific duplications and
their role in the evolution of the primate genome. Toward this goal, we propose
a comparative analysis of the organization and structure of the 22q11 LCRs in
humans and non-human primates. We will analyze the 22q11 LCRs in various
non-human primates at the chromosomal, gross structural and nucleotide sequence
levels. The evolutionary analysis of the primate-specific 22q11 LCRs provide a
unique opportunity to investigate the molecular mechanism underlying this form
of genome evolution. We will also test the hypothesis that the processes
responsible for the origin and spread of the chromosome-specific duplications
are ongoing and may have resulted in genomic variability within the human
population. We will perform a population-based analysis to look for genetic
polymorphism in the structural organization of 22q11 LCRs within various human
population groups. This will allow us to assess the involvement of LCRs in
creating genetic variation that may lead to the genomic instability associated
with human genetic disorders. Thus, the 22q11 LCRs provide a model system with
which to gain a better understanding of the evolution of the human genome.
描述(由申请人提供):大规模遗传重复
物质是推动遗传多样性进化的主要力量。基因
重复和随后的分歧有助于建立
具有特殊功能作用的新基因,这一过程一直很重要,
进化多样性和物种形成的关键。累积
人类基因组序列揭示了一类基因组复制,
是染色体特异性的有趣的是,这些染色体特异性序列
重复或低拷贝重复(LCR)与许多疾病有关
与复发性基因组相关的人类遗传性疾病
重新安排有人提出,
由高度同源的重复序列促进,
缺失、重复和倒置。人类染色体特异性LCR
染色体22q11与各种结构重排有关
导致遗传疾病。虽然人类22q11 LCR已经测序,
对它们在基因组中的进化和扩增知之甚少。
对小鼠基因组的比较分析揭示了在哺乳动物中不存在LCR。
正向基因座对非人类灵长类动物22q11 LCR的研究表明,
它们起源于灵长类动物的进化过程我们希望
研究染色体特异性复制的机制,
它们在灵长类基因组进化中的作用。为了实现这一目标,我们建议
2011年22季度LCR的组织和结构的比较分析,
人类和非人类灵长类动物。我们将分析22q11 LCR在各种
非人灵长类的染色体、大体结构和核苷酸序列
程度.灵长类特异性22q11 LCR的进化分析提供了一个
这是一个独特的机会来研究这种形式的分子机制
基因组进化。我们还将检验这一假设,
负责染色体特异性复制的起源和传播
正在进行中,并可能导致人类基因组变异
人口我们将进行基于人群的分析,
22q11 LCR结构组织中的多态性在各种人类
人口群体。这将使我们能够评估LCR的参与情况,
产生遗传变异,可能导致基因组的不稳定性,
人类遗传疾病因此,22q11 LCR提供了一个模型系统,
从而更好地了解人类基因组的进化。
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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TAMIM H SHAIKH其他文献
TAMIM H SHAIKH的其他文献
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{{ truncateString('TAMIM H SHAIKH', 18)}}的其他基金
Genomewide Copy Number Variation Analysis and Association with Facial Shape Variation
全基因组拷贝数变异分析及其与面部形状变异的关联
- 批准号:
8958556 - 财政年份:2015
- 资助金额:
$ 24.99万 - 项目类别:
Genomewide Copy Number Variation Analysis and Association with Facial Shape Variation
全基因组拷贝数变异分析及其与面部形状变异的关联
- 批准号:
9100700 - 财政年份:2015
- 资助金额:
$ 24.99万 - 项目类别:
Evolution of Chromosome-specific Low Copy Repeats
染色体特异性低拷贝重复的进化
- 批准号:
6423004 - 财政年份:2002
- 资助金额:
$ 24.99万 - 项目类别:
Evolution of Chromosome-specific Low Copy Repeats
染色体特异性低拷贝重复的进化
- 批准号:
6620911 - 财政年份:2002
- 资助金额:
$ 24.99万 - 项目类别: