Standardizing Gene Product Nomenclature-A Call To Action

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA(2021)

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摘要
The current lack of a standardized nomenclature system for gene products (e.g., proteins) has resulted in a haphazard counterproductive system of labeling. Different names are often used for the same gene product; the same name is sometimes used for unrelated gene products. Such ambiguity causes not only potential harm to patients, whose treatments increasingly rely on laboratory tests for multiple gene products, but also miscommunication and inefficiency, both of which hinder progress of broad scientific fields. To mitigate this confusion, we recommend standardizing human protein nomenclature through the use of a Human Genome Organisation (HUGO) Gene Nomenclature Committee (HGNC) gene symbol accompanied by its unique HGNC ID. We call for action across all biomedical communities and scientific and medical journals to standardize nomenclature of gene products using HGNC gene symbols to enhance accuracy in scientific and public communication.\n\n\n\nWe call on all biomedical communities and scientific and medical journals to standardize nomenclature of gene products to enhance accuracy in scientific and public communication. Image credit: Shutterstock/greenbutterfly.\n\n\n\nUse of gene symbols designated by the HGNC [www.genenames.org (1)] is nearly universal. DNA- and RNA-level sequence variation nomenclature has been standardized to use HGNC gene symbols, the Single Nucleotide Polymorphism database (dbSNP) IDs, and genetic variant nomenclature designated by the Human Genome Variation Society (HGVS) to unambiguously designate variants. In striking contrast to the use of universal identifiers for genes and gene variants, there are no universal identifiers for the peptides and proteins that these genes encode.\n\nMany gene products have multiple nomenclatures in widespread use, and many common nomenclatures are used for multiple gene products. For example, the symbol “PD-1” is shared by multiple unrelated gene products and is used to describe PDCD1 , SNCA , and SPATA2 gene products. The PDCD1 (PD-1) protein is a well-known target for cancer immunotherapy. … \n\n[↵][1]1To whom correspondence may be addressed. Email: elspeth@ebi.ac.uk, timothy.oleary@va.gov, or sogino{at}bwh.harvard.edu.\n\n [1]: #xref-corresp-1-1
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