The status of the human gene catalogue

被引：68

作者：

Amaral, Paulo ^{[1
]}

Carbonell-Sala, Silvia ^{[2
]}

De La Vega, Francisco M. ^{[3
,4
]}

Faial, Tiago ^{[5
]}

Frankish, Adam ^{[6
]}

Gingeras, Thomas ^{[7
]}

Guigo, Roderic ^{[8
]}

Harrow, Jennifer L. ^{[9
]}

Hatzigeorgiou, Artemis G. ^{[10
,11
]}

Johnson, Rory ^{[12
,13
,14
,15
]}

Murphy, Terence D. ^{[16
]}

Pertea, Mihaela ^{[17
,18
]}

Pruitt, Kim D. ^{[16
]}

Pujar, Shashikant ^{[16
]}

Takahashi, Hazuki ^{[20
]}

Ulitsky, Igor ^{[21
,22
]}

Varabyou, Ales ^{[17
,19
]}

Wells, Christine A. ^{[23
]}

Yandell, Mark ^{[24
]}

Carninci, Piero ^{[20
,25
]}

Salzberg, Steven L. ^{[17
,18
,19
,26
]}

机构：

[1] INSPER, Inst Educ & Res, Sao Paulo, Brazil

[2] Ctr Genom Regulat CRG, Barcelona, Spain

[3] Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USA

[4] Tempus Labs, Chicago, IL USA

[5] Nat Genet, San Francisco, CA USA

[6] European Mol Biol Lab, European Bioinformat Inst, Wellcome Genome Campus, Hinxton, England

[7] Cold Spring Harbor Lab, Dept Funct Gen, Cold Spring Harbor, NY USA

[8] Univ Pompeu Fabra UPF, Barcelona, Spain

[9] AstraZeneca, Ctr Genom Res Discovery Sci, Royston, England

[10] Univ Thessaly, Dept Comp Sci & Biomed Informat, Lamia, Greece

[11] Hellenic Pasteur Inst, Athens, Greece

[12] Univ Coll Dublin, Sch Biol & Environm Sci, Dublin, Ireland

[13] Univ Coll Dublin, Conway Inst Biomed & Biomol Res, Dublin, Ireland

[14] Univ Bern, Univ Hosp Bern, Inselspital, Dept Med Oncol, Bern, Switzerland

[15] Univ Bern, Dept Biomed Res, Bern, Switzerland

[16] Natl Lib Med, Nat Ctr Biotechnol Informat, NIH, Bethesda, MD USA

[17] Johns Hopkins Univ, Computat Biol, Baltimore, MD 21218 USA

[18] Johns Hopkins Univ, Dept Biomed Engn, Baltimore, MD 21218 USA

[19] Johns Hopkins Univ, Dept Comp Sci, Baltimore, MD 21218 USA

[20] RIKEN Ctr Integrat Med Sci, Lab Transcriptome Technol, Yokohama, Kanagawa, Japan

[21] Weizmann Inst Sci, Dept Immunol & Regenerat Biol, Rehovot, Israel

[22] Weizmann Inst Sci, Dept Mol Neurosci, Rehovot, Israel

[23] Univ Melbourne, Dept Anat & Physiol, Stem Cell Syst, Fac Med Dent & Hlth Sci, Parkville, Vic, Australia

[24] Univ Utah, Utah Ctr Genet Discovery, Dept Human Genet, Salt Lake City, UT USA

[25] Human Technopole, Milan, Italy

[26] Johns Hopkins Univ, Dept Biostat, Baltimore, MD USA

来源：

NATURE | 2023年 / 622卷 / 7981期

基金：

美国国家卫生研究院; 英国医学研究理事会; 英国惠康基金; 爱尔兰科学基金会; 美国国家科学基金会;

关键词：

LONG NONCODING RNAS; SEQUENCE; ANNOTATION; LANDSCAPE; ELEMENTS; DATABASE;

D O I：

10.1038/s41586-023-06490-x

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Scientists have been trying to identify every gene in the human genome since the initial draft was published in 2001. In the years since, much progress has been made in identifying protein-coding genes, currently estimated to number fewer than 20,000, with an ever-expanding number of distinct protein-coding isoforms. Here we review the status of the human gene catalogue and the efforts to complete it in recent years. Beside the ongoing annotation of protein-coding genes, their isoforms and pseudogenes, the invention of high-throughput RNA sequencing and other technological breakthroughs have led to a rapid growth in the number of reported non-coding RNA genes. For most of these non-coding RNAs, the functional relevance is currently unclear; we look at recent advances that offer paths forward to identifying their functions and towards eventually completing the human gene catalogue. Finally, we examine the need for a universal annotation standard that includes all medically significant genes and maintains their relationships with different reference genomes for the use of the human gene catalogue in clinical settings. Although the catalogue of human protein-coding genes is nearing completion, the number of non-coding RNA genes remains highly uncertain, and for all genes much work remains to be done to understand their functions.

引用

页码：41 / 47

页数：7

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