The Biology of Chromosome 21 Genes: R13 Expert Workshop

描述[申请人提供]：为了在唐氏综合征研究中创造新的研究方向和合作机会，需要将两组研究人员聚集在一起：（1）研究人类21号染色体和唐氏综合征及其小鼠模型的研究，（2）学习生物学和/或或定位于21号染色体的特定基因或其组分定位于21号染色体的特定途径或过程的分子生物学。 第一组包括21号染色体专家，他们参与了21号染色体及其同源小鼠基因组区域的定位，测序和注释，21号染色体及其同源小鼠基因的鉴定和表达分析，唐氏综合征小鼠模型的创建和分析，包括节段性三体和转基因，以及人类唐氏综合征表型的定义。 没有参与唐氏综合症研究的第二组成员甚至可能没有意识到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，如转录因子，转录调节因子，或映射到21号染色体的离子通道基因，或过程，如泛素蛋白酶体途径，RNA加工，紧密连接和细胞粘附，或MAP激酶途径，其中每一个都有几个组件或调节基因映射到21号染色体。 该申请要求提供资金，以支付举办研讨会的场地和差旅费，该研讨会将约30名已建立的21号染色体/唐氏综合征研究人员与约30名非唐氏综合征但21号染色体基因专家聚集在一起，讨论21号染色体编码基因的生物学及其在唐氏综合征表型中过度表达的影响。 会议将在资金到位后的五个月内在华盛顿举行，为期三天。 预计这次研讨会将产生新的和可测试的理论，在唐氏综合征的基因-表型相关性，促进新的合作，并介绍新的研究人员与新的专业知识，唐氏综合征的研究领域。

DESCRIPTION [Provided by Applicant]: To create new research directions and opportunities for collaborations in the study of Down syndrome, there is a need to bring together two groups of investigators: (1) those studying human chromosome 21 and Down syndrome and its mouse models, and (2) those studying the biology and/or the molecular biology of specific genes that map to chromosome 21 or specific pathways or processes whose components map to chromosome 21. The first group includes experts on chromosome 21 who have been involved in the mapping, sequencing, and annotation of chromosome 21 and its homologous mouse genomic regions, the identification and expression analysis of chromosome 21 and its homologous 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. Members of the second group not involved in Down syndrome research 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, transcription regulators, or ion channel genes that map to chromosome 21, or processes such as the ubiquitin proteasome pathway, RNA processing, tight junctions and cell adhesion, or the MAP kinase pathway, each of which has several component or modulating genes mapping to chromosome 21. 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 30 non-Down syndrome but chromosome 21 gene 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 timeframe of five months after the availability of funding. It is anticipated that this workshop will generate new and 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.