Function of Genes in Williams Syndrome Deletion Region
威廉姆斯综合征缺失区基因的功能
基本信息
- 批准号:6637998
- 负责人:
- 金额:$ 43.82万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2001
- 资助国家:美国
- 起止时间:2001-07-01 至 2006-05-31
- 项目状态:已结题
- 来源:
- 关键词:
项目摘要
DESCRIPTION (provided by applicant): With the Human Genome Project promising to
provide a catalog of all human genes in the near future, the main challenge of
research in the next century is that of functional genomics. The processes that
control gene activation and repression in a developmental-stage and cell-type
specific manner are fundamental to understanding normal development and
discovering the causes of human disease. Spontaneously recurring microdeletions
are ideal for a systematic study of the downstream effects of hemizygosity for
the defined set of genes in the deletion. Williams-Beuren syndrome (WBS), a
neurodevelopmental disorder with a distinct profile of cognitive and behavioral
features serves as a model system to study the genetic and molecular basis of
cognition, speech, language, and visuo-spatial processing. WBS is caused by
recurrent uniform deletions of 1.6 Mb of DNA from chromosome 7q11.23, that
arise by inter- or intrachromosomal recombination between flanking duplicated
regions. Within the deletion, 16 genes have been identified and characterized.
They function as transcription factors, in DNA replication, chromatin assembly,
translation, signal transduction and as structural proteins. Only one, the
elastin gene has been linked to a specific manifestation, supravalvular aortic
stenosis. To evaluate the functional consequences of hemizygosity for the other
genes, humans with partial deletions will be identified and mouse models
generated with corresponding deletions in the conserved syntenic region on
mouse chromosome 5. Target genes of transcription factors and signaling
molecules will be identified by microarray studies, comparing gene expression
patterns in various tissues from affected humans and deletion mice. Development
of a molecular phenotype of WBS links cognitive neuroscience to molecular
genetics. Insights gained into the molecular pathways, that lead from the
chromosomal deletion to the specific cognitive, behavioral and learning
disabilities may have relevance for common developmental disorders, such as
attention deficit/hyperactivity disorder and autism, as well as for
understanding normal developmental processes.
描述(由申请人提供):随着人类基因组计划的承诺,
在不久的将来提供所有人类基因的目录,
下一个世纪的研究是功能基因组学。的过程
在发育阶段和细胞类型中控制基因激活和抑制
具体方式是理解正常发展的基础,
发现人类疾病的原因。自发性重复微缺失
是系统研究半合子性下游效应的理想选择,
在缺失的基因中定义的一组基因。Williams-Beuren综合征(WBS),a
具有不同认知和行为特征的神经发育障碍
功能作为一个模型系统,以研究遗传和分子基础,
认知、言语、语言和视觉空间处理。WBS是由
染色体7q11.23的1.6 Mb DNA的复发性均匀缺失,
通过侧翼重复的染色体之间的染色体间或染色体内重组而产生
地区在缺失中,已经鉴定和表征了16个基因。
它们在DNA复制、染色质组装、
翻译,信号转导和作为结构蛋白。只有一个,
弹性蛋白基因与一种特殊的表现,主动脉瓣上
狭窄评估半合子对另一个人的功能影响
基因,部分缺失的人类将被鉴定,小鼠模型
在保守的同线区中产生相应的缺失,
小鼠5号染色体。转录因子靶基因与信号转导
分子将通过微阵列研究来鉴定,
受影响的人类和缺失小鼠的各种组织中的模式。发展
WBS的分子表型将认知神经科学与分子
遗传学对分子途径的深入了解,
染色体缺失对特定的认知、行为和学习
残疾可能与常见的发育障碍有关,例如
注意力缺陷/多动症和自闭症,以及
了解正常的发育过程。
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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{{ truncateString('UTA FRANCKE', 18)}}的其他基金
MOLECULAR GENETICS OF THE OCULO-AURICULO-VERTEBRAL (OAV) SPECTRUM
眼-耳-椎 (OAV) 谱的分子遗传学
- 批准号:
7375262 - 财政年份:2005
- 资助金额:
$ 43.82万 - 项目类别:
MOLECULAR GENETICS OF THE OCULO-AURICULO-VERTEBRAL (OAV) SPECTRUM
眼-耳-椎 (OAV) 谱的分子遗传学
- 批准号:
7202115 - 财政年份:2004
- 资助金额:
$ 43.82万 - 项目类别:
Conference on Genotype to Phenotype: Focus on Disease
基因型到表型会议:聚焦疾病
- 批准号:
6446623 - 财政年份:2002
- 资助金额:
$ 43.82万 - 项目类别:
Imprinted SnoRNA Genes in the PWS deletion Region
PWS 缺失区域中的印记 SnoRNA 基因
- 批准号:
6897860 - 财政年份:2002
- 资助金额:
$ 43.82万 - 项目类别:
Imprinted SnoRNA Genes in the PWS deletion Region
PWS 缺失区域中的印记 SnoRNA 基因
- 批准号:
6544794 - 财政年份:2002
- 资助金额:
$ 43.82万 - 项目类别:
Imprinted SnoRNA Genes in the PWS deletion Region
PWS 缺失区域中的印记 SnoRNA 基因
- 批准号:
6760105 - 财政年份:2002
- 资助金额:
$ 43.82万 - 项目类别:
Imprinted SnoRNA Genes in the PWS deletion Region
PWS 缺失区域中的印记 SnoRNA 基因
- 批准号:
6640307 - 财政年份:2002
- 资助金额:
$ 43.82万 - 项目类别:
Function of Genes in Williams Syndrome Deletion Region
威廉姆斯综合征缺失区基因的功能
- 批准号:
6364810 - 财政年份:2001
- 资助金额:
$ 43.82万 - 项目类别:
Function of Genes in Williams Syndrome Deletion Region
威廉姆斯综合征缺失区基因的功能
- 批准号:
6889280 - 财政年份:2001
- 资助金额:
$ 43.82万 - 项目类别:
Function of Genes in Williams Syndrome Deletion Region
威廉姆斯综合征缺失区基因的功能
- 批准号:
6743699 - 财政年份:2001
- 资助金额:
$ 43.82万 - 项目类别:
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