The Biology of Chromosome 21 Genes: towards Gene-Phenotype Correlations in Down

21 号染色体基因的生物学：唐氏基因与表型相关性

• 批准号: 7533819
• 负责人: KATHELEEN GARDINER
• 金额: $ 1.5万
• 依托单位: UNIVERSITY OF COLORADO DENVER
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-07-01 至 2008-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7533819
• 关键词: Biological Assay; Biology; Cell Adhesion; Cell Surface Receptors; Cells; Chromosome Mapping; Chromosomes, Human, Pair 21; Collaborations; District of Columbia; Down Syndrome; Educational workshop; Family member; Fostering; Funding; Genes; Genomics; Human; Individual; Maps; Methodology; Molecular Biology; Mus; Pathway Analysis; Pathway interactions; Phenotype; Process; Protein Overexpression; Proteins; Request for Applications; Research; Research Personnel; Signal Transduction; Time; Transgenic Organisms; Travel; Trisomy; Work; day; mathematical model; mouse model; neurogenesis; novel; protein expression; theories; transcription factor

DESCRIPTION (provided by applicant): To create new research directions and opportunities for new collaborations in Down syndrome research, there is a need to bring together two groups of investigators: (1) those specifically studying human chromosome 21 and Down syndrome and its mouse models, and (2) those studying the cell/molecular biology of specific genes that map to chromosome 21 or specific pathways whose components map to chromosome 21, and those developing/using novel methodologies that might be applicable to Down syndrome research. The first group includes experts on chromosome 21 who have been involved in the mapping, sequencing, and annotation of chromosome 21 and orthologous mouse genomic regions, the identification and expression analysis of chromosome 21 and orthologous mouse genes, the creation and analysis of mouse models of Down syndrome, both segmental trisomies and transgenics, and the definition of the human Down syndrome phenotype. Investigators in the second group are not involved in Down syndrome research and may not even be aware that their work can impact Down syndrome research. They are studying individual genes or family members such as transcription factors, protein modifiers, or cell surface receptors that map to chromosome 21, or pathways/processes such as neurogenesis, cell adhesion, or signal transduction, each of which has several component or modulating genes mapping to chromosome 21. Or they are using large scale approaches to assay protein expression or mathematical modeling for pathway analysis. This application requests funding to cover venue and travel expenses for a workshop to bring together approximately 30 established chromosome 21 Down syndrome investigators with approximately 20 non-Down syndrome but chromosome 21 gene/pathway experts to discuss the biology of chromosome 21-encoded genes and the implications for their overexpression in the Down syndrome phenotype. The meeting will be held for three days in Washington, DC within a time frame of five months after the availability of funding. It is anticipated that this workshop will generate new, testable theories for gene-phenotype correlations in Down syndrome, foster new collaborations, and introduce new researchers with novel expertise to the Down syndrome research field.

描述（由申请人提供）：为了在唐氏综合症研究中创造新的研究方向和新的合作机会，需要将两组研究人员聚集在一起：（1）专门研究人类 21 号染色体和唐氏综合症及其小鼠模型的研究人员，以及（2）研究映射到 21 号染色体的特定基因或其成分映射到 21 号染色体的特定途径的细胞/分子生物学的研究人员，以及开发/使用新方法的研究人员 可能适用于唐氏综合症研究。第一组包括 21 号染色体专家，他们参与了 21 号染色体和直系同源小鼠基因组区域的定位、测序和注释，21 号染色体和直系同源小鼠基因的鉴定和表达分析，唐氏综合症（节段三体性和转基因）小鼠模型的创建和分析，以及人类唐氏综合症表型的定义。第二组研究人员不参与唐氏综合症研究，甚至可能不知道他们的工作会影响唐氏综合症研究。他们正在研究单个基因或家族成员，例如映射到 21 号染色体的转录因子、蛋白质修饰剂或细胞表面受体，或神经发生、细胞粘附或信号转导等途径/过程，其中每个过程都有多个映射到 21 号染色体的成分或调节基因。或者他们正在使用大规模方法来测定蛋白质表达或用于途径分析的数学模型。 该申请请求资助举办研讨会的场地和差旅费，该研讨会将约 30 名 21 号染色体唐氏综合症研究人员与约 20 名非唐氏综合症但 21 号染色体基因/通路专家聚集在一起，讨论 21 号染色体编码基因的生物学及其在唐氏综合症表型中过度表达的影响。会议将在资金到位后五个月内在华盛顿特区举行，为期三天。预计本次研讨会将为唐氏综合症基因-表型相关性产生新的、可测试的理论，促进新的合作，并向唐氏综合症研究领域引入具有新颖专业知识的新研究人员。