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1.
Nucleic Acids Res ; 51(D1): D1003-D1009, 2023 01 06.
Artículo en Inglés | MEDLINE | ID: mdl-36243972

RESUMEN

The HUGO Gene Nomenclature Committee (HGNC) assigns unique symbols and names to human genes. The HGNC database (www.genenames.org) currently contains over 43 000 approved gene symbols, over 19 200 of which are assigned to protein-coding genes, 14 000 to pseudogenes and nearly 9000 to non-coding RNA genes. The public website, www.genenames.org, displays all approved nomenclature within Symbol Reports that contain data curated by HGNC nomenclature advisors and links to related genomic, clinical, and proteomic information. Here, we describe updates to our resource, including improvements to our search facility and new download features.


Asunto(s)
Bases de Datos Genéticas , Humanos , Genoma , Genómica , Proteómica , Seudogenes , Terminología como Asunto
2.
Am J Hum Genet ; 108(10): 1813-1816, 2021 10 07.
Artículo en Inglés | MEDLINE | ID: mdl-34626580

RESUMEN

The use of approved nomenclature in publications is vital to enable effective scientific communication and is particularly crucial when discussing genes of clinical relevance. Here, we discuss several examples of cases where the failure of researchers to use a HUGO Gene Nomenclature Committee (HGNC)-approved symbol in publications has led to confusion between unrelated human genes in the literature. We also inform authors of the steps they can take to ensure that they use approved nomenclature in their manuscripts and discuss how referencing HGNC IDs can remove ambiguity when referring to genes that have previously been published with confusing alias symbols.


Asunto(s)
Bases de Datos Genéticas/normas , Genes/genética , Genoma Humano , Investigadores/normas , Terminología como Asunto , Genómica , Humanos
3.
Hum Genomics ; 16(1): 66, 2022 12 02.
Artículo en Inglés | MEDLINE | ID: mdl-36461115

RESUMEN

The HUGO Gene Nomenclature Committee assigns unique symbols and names to human genes. The use of approved nomenclature enables effective communication between researchers, and there are multiple examples of how the usage of unapproved alias symbols can lead to confusion. We discuss here a recent nomenclature update (May 2022) for a set of genes that encode proteins with a shared repeating ß-groove domain. Some of the proteins encoded by genes in this group have already been shown to function as lipid transporters. By working with researchers in the field, we have been able to introduce a new root symbol (BLTP, which stands for "bridge-like lipid transfer protein") for this domain-based gene group. This new nomenclature not only reflects the shared domain in these proteins, but also takes into consideration the mounting evidence of a shared lipid transport function.


Asunto(s)
Lípidos , Humanos
4.
Hum Genomics ; 16(1): 58, 2022 11 15.
Artículo en Inglés | MEDLINE | ID: mdl-36380364

RESUMEN

The HUGO Gene Nomenclature Committee (HGNC) has been providing standardized symbols and names for human genes since the late 1970s. As funding agencies change their priorities, finding financial support for critical biomedical resources such as the HGNC becomes ever more challenging. In this article, we outline the key roles the HGNC currently plays in aiding communication and the need for these activities to be maintained.


Asunto(s)
Bases de Datos Genéticas , Genómica , Humanos
5.
Nucleic Acids Res ; 49(D1): D939-D946, 2021 01 08.
Artículo en Inglés | MEDLINE | ID: mdl-33152070

RESUMEN

The HUGO Gene Nomenclature Committee (HGNC) based at EMBL's European Bioinformatics Institute (EMBL-EBI) assigns unique symbols and names to human genes. There are over 42,000 approved gene symbols in our current database of which over 19 000 are for protein-coding genes. While we still update placeholder and problematic symbols, we are working towards stabilizing symbols where possible; over 2000 symbols for disease associated genes are now marked as stable in our symbol reports. All of our data is available at the HGNC website https://www.genenames.org. The Vertebrate Gene Nomenclature Committee (VGNC) was established to assign standardized nomenclature in line with human for vertebrate species lacking their own nomenclature committee. In addition to the previous VGNC core species of chimpanzee, cow, horse and dog, we now name genes in cat, macaque and pig. Gene groups have been added to VGNC and currently include two complex families: olfactory receptors (ORs) and cytochrome P450s (CYPs). In collaboration with specialists we have also named CYPs in species beyond our core set. All VGNC data is available at https://vertebrate.genenames.org/. This article provides an overview of our online data and resources, focusing on updates over the last two years.


Asunto(s)
Biología Computacional/métodos , Bases de Datos Genéticas , Genes/genética , Genómica/métodos , Terminología como Asunto , Vertebrados/genética , Animales , Humanos , Internet , Proteínas/genética , Especificidad de la Especie , Interfaz Usuario-Computador , Vertebrados/clasificación
6.
Nucleic Acids Res ; 47(D1): D786-D792, 2019 01 08.
Artículo en Inglés | MEDLINE | ID: mdl-30304474

RESUMEN

The HUGO Gene Nomenclature Committee (HGNC) based at EMBL's European Bioinformatics Institute (EMBL-EBI) assigns unique symbols and names to human genes. There are over 40 000 approved gene symbols in our current database of which over 19 000 are for protein-coding genes. The Vertebrate Gene Nomenclature Committee (VGNC) was established in 2016 to assign standardized nomenclature in line with human for vertebrate species that lack their own nomenclature committees. The VGNC initially assigned nomenclature for over 15000 protein-coding genes in chimpanzee. We have extended this process to other vertebrate species, naming over 14000 protein-coding genes in cow and dog and over 13 000 in horse to date. Our HGNC website https://www.genenames.org has undergone a major design update, simplifying the homepage to provide easy access to our search tools and making the site more mobile friendly. Our gene families pages are now known as 'gene groups' and have increased in number to over 1200, with nearly half of all named genes currently assigned to at least one gene group. This article provides an overview of our online data and resources, focusing on our work over the last two years.


Asunto(s)
Biología Computacional/normas , Bases de Datos Genéticas/normas , Genómica/normas , Terminología como Asunto , Animales , Bovinos , Perros , Caballos/genética , Humanos , Pan troglodytes/genética , Motor de Búsqueda
7.
Nucleic Acids Res ; 45(D1): D619-D625, 2017 01 04.
Artículo en Inglés | MEDLINE | ID: mdl-27799471

RESUMEN

The HUGO Gene Nomenclature Committee (HGNC) based at the European Bioinformatics Institute (EMBL-EBI) assigns unique symbols and names to human genes. Currently the HGNC database contains almost 40 000 approved gene symbols, over 19 000 of which represent protein-coding genes. In addition to naming genomic loci we manually curate genes into family sets based on shared characteristics such as homology, function or phenotype. We have recently updated our gene family resources and introduced new improved visualizations which can be seen alongside our gene symbol reports on our primary website http://www.genenames.org In 2016 we expanded our remit and formed the Vertebrate Gene Nomenclature Committee (VGNC) which is responsible for assigning names to vertebrate species lacking a dedicated nomenclature group. Using the chimpanzee genome as a pilot project we have approved symbols and names for over 14 500 protein-coding genes in chimpanzee, and have developed a new website http://vertebrate.genenames.org to distribute these data. Here, we review our online data and resources, focusing particularly on the improvements and new developments made during the last two years.


Asunto(s)
Bases de Datos Genéticas , Genes , Genoma , Genómica/métodos , Terminología como Asunto , Vertebrados , Navegador Web , Animales , Humanos , Familia de Multigenes , Motor de Búsqueda
8.
Genome Biol ; 24(1): 115, 2023 05 12.
Artículo en Inglés | MEDLINE | ID: mdl-37173739

RESUMEN

The Vertebrate Gene Nomenclature Committee (VGNC) was established in 2016 as a sister project to the HUGO Gene Nomenclature Committee, to approve gene nomenclature in vertebrate species without an existing dedicated nomenclature committee. The VGNC aims to harmonize gene nomenclature across selected vertebrate species in line with human gene nomenclature, with orthologs assigned the same nomenclature where possible. This article presents an overview of the VGNC project and discussion of key findings resulting from this work to date. VGNC-approved nomenclature is accessible at https://vertebrate.genenames.org and is additionally displayed by the NCBI, Ensembl, and UniProt databases.


Asunto(s)
Bases de Datos Genéticas , Vertebrados , Animales , Humanos , Vertebrados/genética
9.
J Cell Biol ; 221(2)2022 02 07.
Artículo en Inglés | MEDLINE | ID: mdl-35006274

RESUMEN

Dyneins are highly complex, multicomponent, microtubule-based molecular motors. These enzymes are responsible for numerous motile behaviors in cytoplasm, mediate retrograde intraflagellar transport (IFT), and power ciliary and flagellar motility. Variants in multiple genes encoding dyneins, outer dynein arm (ODA) docking complex subunits, and cytoplasmic factors involved in axonemal dynein preassembly (DNAAFs) are associated with human ciliopathies and are of clinical interest. Therefore, clear communication within this field is particularly important. Standardizing gene nomenclature, and basing it on orthology where possible, facilitates discussion and genetic comparison across species. Here, we discuss how the human gene nomenclature for dyneins, ODA docking complex subunits, and DNAAFs has been updated to be more functionally informative and consistent with that of the unicellular green alga Chlamydomonas reinhardtii, a key model organism for studying dyneins and ciliary function. We also detail additional nomenclature updates for vertebrate-specific genes that encode dynein chains and other proteins involved in dynein complex assembly.


Asunto(s)
Consenso , Dineínas/clasificación , Terminología como Asunto , Animales , Axonema/metabolismo , Humanos , Fenotipo , Estándares de Referencia
10.
Immunohorizons ; 6(4): 253-272, 2022 04 19.
Artículo en Inglés | MEDLINE | ID: mdl-35440514

RESUMEN

Syntenic genomic loci on human chromosome 8 and mouse chromosome 15 (mChr15) code for LY6/Ly6 (lymphocyte Ag 6) family proteins. The 23 murine Ly6 family genes include eight genes that are flanked by the murine Ly6e and Ly6l genes and form an Ly6 subgroup referred to in this article as the Ly6a subfamily gene cluster. Ly6a, also known as Stem Cell Ag-1 and T cell-activating protein, is a member of the Ly6a subfamily gene cluster. No LY6 genes have been annotated within the syntenic LY6E to LY6L human locus. We report in this article on LY6S, a solitary human LY6 gene that is syntenic with the murine Ly6a subfamily gene cluster, and with which it shares a common ancestry. LY6S codes for the IFN-inducible GPI-linked LY6S-iso1 protein that contains only 9 of the 10 consensus LY6 cysteine residues and is most highly expressed in a nonclassical spleen cell population. Its expression leads to distinct shifts in patterns of gene expression, particularly of genes coding for inflammatory and immune response proteins, and LY6S-iso1-expressing cells show increased resistance to viral infection. Our findings reveal the presence of a previously unannotated human IFN-stimulated gene, LY6S, which has a 1:8 ortholog relationship with the genes of the Ly6a subfamily gene cluster, is most highly expressed in spleen cells of a nonclassical cell lineage, and whose expression induces viral resistance and is associated with an inflammatory phenotype and with the activation of genes that regulate immune responses.


Asunto(s)
Bazo , Virosis , Animales , Antígenos Ly/genética , Humanos , Inflamación/genética , Linfocitos , Proteínas de la Membrana/genética , Ratones , Familia de Multigenes , Virosis/genética
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