The Nomenclature of Human and Vertebrate Genes

人类和脊椎动物基因的命名法

• 批准号: 10456716
• 负责人: Ewan Birney
• 金额: $ 51.13万
• 依托单位: EUROPEAN MOLECULAR BIOLOGY LABORATORY
• 依托单位国家: 美国
• 财政年份: 2004
• 资助国家: 美国
• 起止时间: 2004-09-15 至 2024-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10456716
• 关键词: Animal Model; Area; Biology; Canis familiaris; Cattle; Chickens; Clinical; Code; Collaborations; Communication; Complex; Confusion; Consensus; Coupled; Cytochrome P450; Data; Data Set; Databases; Drug Metabolic Detoxication; Ensure; Equus caballus; Family; Freezing; Funding; Future; Gene Duplication; Gene Family; Gene Transfer; Genes; Genome; Glucuronosyltransferase; Glutathione S-Transferase; Goals; Healthcare; Human; Human Genome; Language; Lead; Learning; Life; Machine Learning; Mammals; Manuals; Modeling; Mus; Names; Nomenclature; Open Reading Frames; Orthologous Gene; Pan Genus; Patients; Pharmacology; Phenotype; Process; Proteins; Pseudogenes; Public Health; Publications; Publishing; RNA; Rattus; Research Personnel; Resources; Science; Source; Standardization; Study models; Syntenic Conservation; Training; Untranslated RNA; Update; Vertebrates; Work; Xenopus; Zebrafish; authority; base; clinical practice; clinically relevant; data exchange; gene product; genomic data; human genomics; interest; member; multiple data sources; novel; olfactory receptor; parallelization; precision medicine; prevent; prototype; success; tool; user-friendly; vertebrate genome; web site

PROJECT SUMMARY - HGNC The core objective of the HUGO Gene Nomenclature Committee (HGNC) is to enable effective communication and data exchange between everyone with an interest in human genes, by providing a unique, concise and standardized gene symbol and name for every human gene. As usage of genomic data increases in healthcare the need for a consistent language for genes becomes ever more vital. Aim 1 of this proposal will ensure the continuity of standardized naming of novel human protein-coding genes, long and small non-protein-coding RNA (ncRNA) genes, and pseudogenes. In particular all putative novel protein coding loci will require careful consideration; as active members of the Consensus Coding Sequence (CCDS) consortium, HGNC can ensure that named loci accurately reflect the current expert manual annotations provided by consortium members. Aim 2 concentrates on renaming newly characterized human genes that are currently assigned a placeholder symbol; some genes with a phenotype-based nomenclature will also be considered for reassignment. These updates will reflect functional information, aid name transferal to orthologous genes, and avoid confusion. This round of revision will be a precursor to a nomenclature freeze for the majority of protein coding genes. Aim 3 focusses on coordinating gene naming across vertebrates, collaborating with the six existing vertebrate gene nomenclature committees (mouse, rat, chicken, Anolis, Xenopus, zebrafish) which base their naming on human gene nomenclature. As the Vertebrate Gene Nomenclature Committee (VGNC) this effort will be extended to naming genes in vertebrates lacking a nomenclature authority, such as cow, dog and horse. Recent gene naming in chimpanzee enabled creation of the necessary tools, pipelines and databases required for naming in other species. Assignments will reflect homologous relationships to human genes. Aim 4 will investigate the utility of machine learning in automated assignment of systematic nomenclature to long ncRNA genes and vertebrate orthologs, and potentially to pseudogenes. Models will be trained on manually curated datasets to learn both explicit and implicit practices, and then applied at scale. Aim 5 will ensure consistent naming across vertebrates in complex and divergent gene families, which can reveal some of the most interesting evolutionary biology and account for key diversity between species, but require careful manual curation. HGNC will collaborate with experts to expand the successful gene naming in the pharmacologically relevant cytochrome P450 (CYP) family to further species, also working across species on two other complex key families involved in detoxification, the glutathione S-transferases (GST) and UDP-glucuronosyltransferases (UGTs). HGNC will also work with experts to expand gene naming of olfactory receptors, the largest vertebrate gene family, from mammals to other well- studied model organisms such as zebrafish, Xenopus and chicken. HGNC is the only group worldwide providing systematic and user-friendly names for genes that are used throughout biomedical science and clinical practice; this is a crucial facility, with increasing importance and direct benefits for public health.

项目概要 - HGNC HUGO 基因命名委员会 (HGNC) 的核心目标是实现有效的沟通 通过提供独特的、简洁的和对人类基因感兴趣的每个人之间的数据交换 每个人类基因的标准化基因符号和名称。随着基因组数据在医疗保健领域的使用不断增加 对基因一致语言的需求变得越来越重要。该提案的目标 1 将确保 新型人类蛋白质编码基因、长和小非蛋白质编码RNA标准化命名的连续性 (ncRNA) 基因和假基因。特别是所有假定的新蛋白质编码位点都需要小心 考虑;作为共识编码序列（CCDS）联盟的积极成员，HGNC 可以确保 该命名位点准确地反映了联盟成员提供的当前专家手册注释。目的 2 集中于重命名当前分配有占位符符号的新表征的人类基因； 一些具有基于表型命名法的基因也将被考虑重新分配。这些更新将 反映功能信息，帮助名称转移到直系同源基因，并避免混淆。本轮 修订将是大多数蛋白质编码基因命名法冻结的前兆。目标 3 重点关注 协调脊椎动物的基因命名，与六种现有的脊椎动物基因命名法合作 根据人类基因命名的委员会（小鼠、大鼠、鸡、安乐蜥、爪蟾、斑马鱼） 命名法。作为脊椎动物基因命名委员会 (VGNC)，这项工作将扩展到命名 缺乏命名权威的脊椎动物中的基因，例如牛、狗和马。最近的基因命名 黑猩猩能够创建其他命名所需的必要工具、管道和数据库 物种。分配将反映与人类基因的同源关系。目标 4 将调查的效用 机器学习在长 ncRNA 基因和脊椎动物的系统命名自动分配中的应用 直系同源物，并可能是假基因。模型将在手动管理的数据集上进行训练，以学习两者 显性和隐性实践，然后大规模应用。目标 5 将确保脊椎动物的命名一致 在复杂和不同的基因家族中，这可以揭示一些最有趣的进化生物学和 考虑到物种之间的关键多样性，但需要仔细的人工管理。 HGNC将与 专家们在药理学相关的细胞色素 P450 (CYP) 家族中扩大了成功的基因命名 为了进一步研究物种，还跨物种研究涉及解毒的另外两个复杂的关键家族， 谷胱甘肽 S-转移酶 (GST) 和 UDP-葡萄糖醛酸基转移酶 (UGT)。 HGNC也将与专家合作 扩大嗅觉受体（最大的脊椎动物基因家族）的基因命名，从哺乳动物到其他动物 研究了斑马鱼、爪蟾和鸡等模式生物。 HGNC 是全球唯一一家提供 在整个生物医学科学和临床实践中使用的系统且用户友好的基因名称； 这是一个至关重要的设施，对公共卫生的重要性和直接效益日益增加。