The Biology of Chromosome 21 Genes: R13 Expert Workshop

描述[申请人提供]：为了在唐氏综合症的研究中创造新的研究方向和合作机会，需要召集两组研究人员：(1)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的生物学和/或分子生物学，或研究其成分映射到21号染色体的特定路径或过程的研究人员。第一个小组包括21号染色体方面的专家，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，唐氏综合症小鼠模型的建立和分析，包括节段性三体和转基因，以及人类唐氏综合症表型的定义。没有参与唐氏综合症研究的第二组成员可能甚至没有意识到他们的工作可能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，如映射到21号染色体的转录因子、转录调节器或离子通道基因，或过程，如泛素蛋白酶体途径、RNA加工、紧密连接和细胞黏附，或MAP激酶途径，其中每一个都有几个成分或调节基因映射到21号染色体。这项申请申请的资金用于支付研讨会的场地和旅费，该研讨会聚集了大约30名成熟的21号染色体/唐氏综合症研究人员和大约30名非唐氏综合症但21号染色体基因专家，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含义。会议将在获得资金后五个月的时间内，在华盛顿特区举行三天。预计这次研讨会将为唐氏综合症的基因-表型相关性产生新的和可检验的理论，促进新的合作，并将具有新专业知识的新研究人员引入唐氏综合症研究领域。

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.