The Nomenclature of Human and Vertebrate Genes

项目总结-HGNC 雨果基因命名委员会(HGNC)的核心目标是实现有效的交流 以及每个对人类基因感兴趣的人之间的数据交换，通过提供独特、简洁和 标准化的基因符号和每个人类基因的名称。随着基因组数据在医疗保健中的使用增加 对于基因来说，需要一种一致的语言变得越来越重要。这项提案的目标1将确保 人类新蛋白质编码基因、长而小的非蛋白质编码RNA标准化命名的连续性 (NcRNA)基因和假基因。特别是，所有假定的新的蛋白质编码基因座都需要仔细 考虑；作为共识编码序列(CCDS)联盟的积极成员，HGNC可以确保 该命名的基因座准确地反映了联合会成员目前提供的专家手册注释。目标 2集中于重新命名目前被分配了占位符符号的新的人类特征基因； 一些基于表型命名的基因也将被考虑重新分配。这些更新将 反映功能信息，帮助名称转移到同源基因，避免混淆。这一轮 修订将成为冻结大多数蛋白质编码基因命名的先兆。《目标3》聚焦于 协调脊椎动物之间的基因命名，与现有的六种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、Anolis、非洲爪哇、斑马鱼) 命名法。作为脊椎动物基因命名委员会(VGNC)，这一努力将扩展到命名 缺乏命名权威的脊椎动物的基因，如牛、狗和马。中国最新的基因命名 黑猩猩支持创建命名所需的必要工具、管道和数据库 物种。作业将反映与人类基因的同源关系。目标4将调查以下各项的效用 机器学习在长ncRNA基因和脊椎动物系统命名自动分配中的应用 同源基因，而且可能是假基因。模型将在手动管理的数据集上进行培训，以了解这两种情况 明确和隐含的做法，然后大规模应用。Aim 5将确保脊椎动物之间一致的命名 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 专家扩大药理相关细胞色素P450(CYP)家族的成功基因命名 对于更多的物种，也在另外两个参与解毒的复杂关键家族上进行跨物种的工作， 谷胱甘肽S转移酶(GST)和UDP葡萄糖醛酸基转移酶(UGTS)。HGNC还将与专家合作 为了将嗅觉受体这个最大的脊椎动物基因家族的基因命名从哺乳动物扩展到其他完好的 研究了斑马鱼、非洲爪哇和鸡等模式生物。HGNC是全球唯一一家提供 在生物医学科学和临床实践中使用的基因的系统和用户友好的名称； 这是一个关键的设施，对公共卫生的重要性和直接好处越来越大。

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.