Common Chromosomal Inversions and Genomic Variability

常见的染色体倒位和基因组变异

基本信息

  • 批准号:
    6888977
  • 负责人:
  • 金额:
    $ 33.55万
  • 依托单位:
  • 依托单位国家:
    美国
  • 项目类别:
  • 财政年份:
    2003
  • 资助国家:
    美国
  • 起止时间:
    2003-06-05 至 2008-05-31
  • 项目状态:
    已结题

项目摘要

DESCRIPTION (provided by applicant): Recent studies of the human genome have revealed large blocks of almost identical sequences in particular chromosomal regions, comprising about 5 percent of the human genomic sequence. Non-allelic homologous recombination between these paralogous sequences results in changes of genomic structure creating inversions and other types of chromosomal rearrangements. Variation in chromosomal architecture, such as submicroscopical inversions, is more widespread in the human genome than previously thought. One example of a common inversion polymorphism is identified on chromosome 8p23. The main goal of this proposal is to characterize the 8p23 inversion region and develop tools for genome-wide investigation of similar rearrangements. The 8p23 rearrangement, an inversion polymorphism spanning about a 4Mb region flanked by paralogous sequences, was only recently recognized on different haptotypes. The region surrounding or including the inversion on chromosome 8p has been implicated by several independent mapping studies of complex phenotypes including schizophrenia, bipolar disorder, Tourette syndrome, harm avoidance, and prostate cancer susceptibility. Understanding the underlying structure and history of the 8p inversion region is needed to study its role in genome evolution and investigation of these putative loci also requires molecular characterization of the 8p inversion region. Little is known about common inversions. We will conduct detailed analysis of the flanking paralogous sequences and investigate the presence of haplotypes blocks for this region; this will reveal the phylogenetic history of these duplicated segments and enable us to reconstruct the most likely ancestral configuration. Expression profiles will be established for different inversion haplotypes to test the hypothesis that 8p inversion events may affect local or more global gene expression. We will develop a simple assay in order to screen large numbers of samples for the presence of the 8p inversion. Additionally, this and similar inversions may affect the results of statistical genetic analyses; we will investigate the possible implications of these rearrangements on mapping studies, develop statistical methods for linkage and linkage disequilibrium mapping to integrate inversion information for each chromosome, and re-analyze prior genotype data for the different traits that were previously associated with this region. Furthermore, tools will be developed and applied to predict and identify additional genome regions with similar variability, further expanding the possible link between chromosomal architecture and complex traits.
描述(由申请人提供): 最近对人类基因组的研究已经揭示了在特定染色体区域中几乎相同的序列的大块,包括约5%的人类基因组序列。这些旁系同源序列之间的非等位基因同源重组导致基因组结构的变化,产生倒位和其他类型的染色体重排。染色体结构的变异,如亚显微倒位,在人类基因组中比以前认为的更普遍。常见的倒位多态性的一个例子是在染色体8p23上鉴定的。该提案的主要目标是描述8p23倒位区域的特征,并开发用于全基因组调查类似重排的工具。 8p23重排,一个倒位多态性跨越约4Mb的区域两侧的旁系同源序列,最近才认识到不同的单体型。围绕或包括染色体8p上倒位的区域已经被包括精神分裂症、双相情感障碍、抽动秽语综合征、伤害回避和前列腺癌易感性在内的复杂表型的几个独立作图研究所牵连。了解8p倒位区的基本结构和历史是研究其在基因组进化中的作用所必需的,并且对这些推定位点的调查也需要8p倒位区的分子表征。 对常见的反转知之甚少。我们将进行详细分析的侧翼旁系同源序列,并调查该地区的单倍型块的存在,这将揭示这些重复的片段的系统发育史,使我们能够重建最有可能的祖先配置。将建立不同倒位单倍型的表达谱,以检验8p倒位事件可能影响局部或更全局基因表达的假设。我们将开发一种简单的测定方法,以筛选大量样品中是否存在8p倒位。此外,这种和类似的倒位可能会影响统计遗传分析的结果,我们将调查这些重排对作图研究的可能影响,开发连锁和连锁不平衡作图的统计方法,以整合每条染色体的倒位信息,并重新分析以前与该区域相关的不同性状的基因型数据。此外,将开发和应用工具来预测和识别具有类似变异性的其他基因组区域,进一步扩大染色体结构和复杂性状之间的可能联系。

项目成果

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Roel A Ophoff其他文献

Roel A Ophoff的其他文献

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{{ truncateString('Roel A Ophoff', 18)}}的其他基金

Improving Prediction of Prognosis in Frontotemporal Dementia Using Epigenetic and Genetic Markers of Biological Aging and Disease
利用生物衰老和疾病的表观遗传和遗传标记改善额颞叶痴呆的预后预测
  • 批准号:
    10196850
  • 财政年份:
    2021
  • 资助金额:
    $ 33.55万
  • 项目类别:
Joint genomic and statistical analyses of schizophrenia and bipolar to decipher genetic susceptibility
精神分裂症和躁郁症的联合基因组和统计分析以破译遗传易感性
  • 批准号:
    10349574
  • 财政年份:
    2018
  • 资助金额:
    $ 33.55万
  • 项目类别:
Integrating case-control transcriptomic and genetic data in admixed individuals to identify disease genes for schizophrenia and bipolar disorder
整合混合个体的病例对照转录组和遗传数据,以确定精神分裂症和双相情感障碍的疾病基因
  • 批准号:
    10681798
  • 财政年份:
    2018
  • 资助金额:
    $ 33.55万
  • 项目类别:
Exposure to cyanobacteria and BMAA in ALS through the gut environment microbiome
ALS 患者通过肠道环境微生物组接触蓝藻和 BMAA
  • 批准号:
    8758601
  • 财政年份:
    2014
  • 资助金额:
    $ 33.55万
  • 项目类别:
Exposure to cyanobacteria and BMAA in ALS through the gut environment microbiome
ALS 患者通过肠道环境微生物组接触蓝藻和 BMAA
  • 批准号:
    8934118
  • 财政年份:
    2014
  • 资助金额:
    $ 33.55万
  • 项目类别:
Parental Age and Schizophrenia Susceptibility
父母年龄和精神分裂症易感性
  • 批准号:
    8676945
  • 财政年份:
    2013
  • 资助金额:
    $ 33.55万
  • 项目类别:
Parental Age and Schizophrenia Susceptibility
父母年龄和精神分裂症易感性
  • 批准号:
    8511320
  • 财政年份:
    2013
  • 资助金额:
    $ 33.55万
  • 项目类别:
Rare Coding Variants at Microdeletion Regions and Schizophrenia Susceptibility
微缺失区域的罕见编码变异与精神分裂症易感性
  • 批准号:
    8032372
  • 财政年份:
    2011
  • 资助金额:
    $ 33.55万
  • 项目类别:
Rare Coding Variants at Microdeletion Regions and Schizophrenia Susceptibility
微缺失区域的罕见编码变异与精神分裂症易感性
  • 批准号:
    8328608
  • 财政年份:
    2011
  • 资助金额:
    $ 33.55万
  • 项目类别:
Genomic Studies of Bipolar Disorder in a Large Cohort from The Netherlands
荷兰大群体双相情感障碍的基因组研究
  • 批准号:
    8470241
  • 财政年份:
    2010
  • 资助金额:
    $ 33.55万
  • 项目类别:
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