DOCSLIB.ORG

Expanded Human Gene Tally Reignites Debate After 15 Years, Researchers Still Can’T Agree on How Many Genes Are in the Human Genome

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Expanded Human Gene Tally Reignites Debate After 15 Years, Researchers Still Can’T Agree on How Many Genes Are in the Human Genome NEWS IN FOCUS GENETICS Expanded human gene tally reignites debate After 15 years, researchers still can’t agree on how many genes are in the human genome. BY CASSANDRA WILLYARD But many geneticists aren’t yet convinced an average of around 40,000. These days, the that all the newly proposed genes will stand up span of estimates has shrunk — with most now ne of the earliest attempts to estimate to close scrutiny. Their criticisms underscore between 19,000 and 22,000 — but there is still the number of genes in the human just how difficult it is to identify new genes, or disagreement (see ‘Gene tally’). genome involved tipsy geneticists, even to define what a Salzberg’s team used data from the Oa bar in Cold Spring Harbor, New York, and “People have gene is. Genotype-Tissue Expression (GTEx) pro- pure guesswork. been working “People have been ject, which sequenced RNA from more than That was in 2000, when a draft human hard at this for working hard at this 30 different tissues taken from several hundred genome sequence was still in the works; geneti- 20 years, and we for 20 years, and we cadavers. RNA is the intermediary between cists were running a sweepstake on how many still don’t have still don’t have the DNA and proteins. The researchers wanted to genes humans have, and wagers ranged from the answer.” answer,” says Steven identify genes that encode a protein and those tens of thousands to hundreds of thousands. Salzberg, a computa- that don’t, but that still have an important role Almost two decades later, scientists armed tional biologist at Johns Hopkins University in in cells. So they assembled GTEx’s 900 billion with real data still can’t agree on the number — Baltimore, Maryland, whose team produced tiny RNA snippets and aligned them with the a knowledge gap that they say hampers efforts the latest count. human genome. to spot disease-related mutations. Just because a stretch of DNA is expressed The latest attempt to plug that gap uses data HARD TO PIN DOWN as RNA, however, does not necessarily mean from hundreds of human tissue samples and In 2000, with the genomics community abuzz it’s a gene. So the team attempted to filter out was posted on the bioRxiv preprint server on over the question of how many human genes noise using a variety of criteria. For example, 29 May (M. Pertea et al. Preprint at bioRxiv would be found, researcher Ewan Birney the researchers compared their results with http://doi.org/cq5s; 2018). It includes almost launched the GeneSweep contest. Birney, genomes from other species, reasoning that 5,000 genes that haven’t previously been spot- now co-director of the European Bioinformat- sequences shared by distantly related crea- ted — among them nearly 1,200 that carry ics Institute (EBI) in Hinxton, UK, took the tures have probably been preserved by evolu- instructions for making proteins. And the first bets at a bar during an annual genetics tion because they serve a useful purpose, and overall tally of more than 21,000 protein- meeting, and the contest eventually attracted so are likely to be genes. coding genes is a substantial jump from more than 1,000 entries and a US$3,000 jack- The team was left with 21,306 protein- previous estimates, which put the figure at pot. Bets on the number of genes ranged from coding genes and 21,856 non-coding genes around 20,000. more than 312,000 to just under 26,000, with — many more than are included in the two most widely used human-gene databases. The GENCODE gene set, maintained by the EBI, GENE TALLY includes 19,901 protein-coding genes and Scientists still don’t agree on how many protein-coding genes the human genome holds, but the range of 15,779 non-coding genes. RefSeq, a database their estimates has narrowed in recent years. run by the US National Center for Biotechnol- 6,700 ogy Information (NCBI), lists 20,203 protein- coding genes and 17,871 non-coding genes. Kim Pruitt, a genome researcher at the 100 NCBI in Bethesda, Maryland, and a former head of RefSeq, says the difference is probably SOURCE: M. PERTEA & S. L. SALZBERG due in part to the volume of data that Salzberg’s 80 team analysed. RefSeq relies on an older data set that contains 21 billion short sequences. GENCODE uses different data again: a type 60 Estimated value that makes recognizing transcripts easier, but Range of estimates The latest count which can miss genes. And there’s another found 21,306 major difference. Both GENCODE and Ref- 1 Launch of the Human protein-coding 40 Genome Project genes. Seq use manual curation — a person reviews the evidence for the gene and makes a final 2 First draft of human genome released determination. Salzberg’s group relied solely on computer programs to sift the data. Number of protein-coding genes (thousands) Number of protein-coding 20 3 Rened analysis of “If people like our gene list, then maybe a complete genome 1 2 3 couple years from now we’ll be the arbiter of 0 human genes,” says Salzberg. 1960 1970 1980 1990 2000 2010 But many scientists say they need more evidence to be convinced that the latest list is 354 | NATURE | VOL 558 | 21 JUNE© 20182018 Mac millan Publishers Li mited, part of Spri nger Nature. All ri ghts reserved. ©2018 Mac millan Publishers Li mited, part of Spri nger Nature. All ri ghts reserved. IN FOCUS NEWS accurate. Adam Frankish, a computational his group and others. genes and disease. Uncounted genes are often biologist at the EBI who coordinates the man- Further confounding counting efforts is the ignored, even if they contain a disease-causing ual annotation of GENCODE, says that he and imprecise and changing definition of a gene. mutation, Salzberg says. But hastily adding his group have scanned about 100 of the pro- Biologists used to see genes as sequences that genes to the master list can pose risks, too, says tein-coding genes identified by Salzberg’s team. code for proteins, but then it became clear that Frankish. A gene that turns out to be incorrect By their assessment, only one of those seems some non-coding RNA molecules have impor- can divert geneticists’ attention away from the to be a true protein-coding gene. And Pruitt’s tant roles in cells. Judging which are important real problem. team looked at about a dozen of the Salzberg — and should be deemed genes — is contro- Still, the inconsistencies in the number of group’s new protein-coding genes, but didn’t versial, and could explain some of the discrep- genes from database to database are prob- find any that would meet RefSeq’s criteria. ancies between Salzberg’s count and others. lematic for researchers, Pruitt says. “People Salzberg acknowledges that the new genes Having an accurate tally of all human genes want one answer,” she adds, “but biology is on his team’s list will require validation by is key for efforts to uncover links between complex.” ■ MEDICAL RESEARCH Silent cancer cells targeted Researchers hunt dormant cells that break off tumours, and aim to keep them asleep. BY HEIDI LEDFORD — such as those in the breast, prostate and breast-cancer specialist at Indiana University pancreas — that recur at a high rate, some- in Indianapolis. But several labs have made fter decades of designing drugs to kill times many years after treatment. “You remove progress, developing models to track dormant rapidly dividing tumour cells, many the tumour, you irradiate, you do this, you do cells in mice for more than a year. cancer researchers are switching that,” says cancer researcher Mina Bissell, of Techniques for identifying those cells are Agears: targeting malignant cells that lie silent the Lawrence Berkeley National Laboratory also improving. Joshua Snyder, a cell biolo- and scattered around the body, before they give in California. “But sooner or later the cancer gist at Duke University School of Medicine in rise to new tumours. metastasizes, and you say to yourself, ‘Where Durham, North Carolina, uses a mix of fluo- These cells seed the metastases responsi- did these things come from?’” rescent markers to identify and trace rogue ble for about 90% of cancer deaths. They are cells expressing cancer-linked genes. the source of the heartbreaking cancer resur- CELL SPOTTING And at the meet- gence seen in many people whose seemingly Mounting evidence suggests that dormant cells “As long as those ing in Montreal, successful initial treatment had fostered break away from a parent tumour early in its cells remain geneticist Jason hopes that they were cured. Treatments that development and travel through blood vessels dormant, Bielas of the Fred target proliferating tumour cells often miss to new sites in the body (see Nature Methods they’re not Hutchinson Cancer these silent cells because they’re not actively 15, 249–252; 2018). But then, after settling into killing my Research Center in dividing. other tissues or organs, such cells will effec- patient.” Seattle, Washing- Dormant cancer cells are rare, and they are tively go to sleep, lying dormant until a trigger ton, will present difficult to sift from the trillions of normal — as yet unknown — rouses them. Only then preliminary results from his efforts to cells in the body. For years, scientists lacked do they begin dividing and form a new tumour. barcode such cells using specific DNA the tools to study them, says cancer researcher When cancer researchers tried to study this sequences.
Load more

Recommended publications
  • Gene Prediction: the End of the Beginning Comment Colin Semple
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by PubMed Central http://genomebiology.com/2000/1/2/reports/4012.1 Meeting report Gene prediction: the end of the beginning comment Colin Semple Address: Department of Medical Sciences, Molecular Medicine Centre, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK. E-mail: [email protected] Published: 28 July 2000 reviews Genome Biology 2000, 1(2):reports4012.1–4012.3 The electronic version of this article is the complete one and can be found online at http://genomebiology.com/2000/1/2/reports/4012 © GenomeBiology.com (Print ISSN 1465-6906; Online ISSN 1465-6914) Reducing genomes to genes reports A report from the conference entitled Genome Based Gene All ab initio gene prediction programs have to balance sensi- Structure Determination, Hinxton, UK, 1-2 June, 2000, tivity against accuracy. It is often only possible to detect all organised by the European Bioinformatics Institute (EBI). the real exons present in a sequence at the expense of detect- ing many false ones. Alternatively, one may accept only pre- dictions scoring above a more stringent threshold but lose The draft sequence of the human genome will become avail- those real exons that have lower scores. The trick is to try and able later this year. For some time now it has been accepted increase accuracy without any large loss of sensitivity; this deposited research that this will mark a beginning rather than an end. A vast can be done by comparing the prediction with additional, amount of work will remain to be done, from detailing independent evidence.
    [Show full text]
  • Life Will Never Be the Same Annual Genome Sequencing and Biology Meeting, Cold Spring Harbor Laboratory, USA
    Yeast Yeast 2000; 17: 241±243. Meeting Review Life will never be the same Annual Genome Sequencing and Biology Meeting, Cold Spring Harbor Laboratory, USA. May 2000 M.A. Strivens* MRC Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell, UK *Correspondence to: M. A. Strivens, MRC Mammalian Genetics Unit and UK Mouse Genome Centre, Harwell, Oxfordshire OX11 0RD,UK. E-mail: [email protected] It seems appropriate that the Cold Spring Harbor The crux of the whole-genome shotgun strategy is Genome Sequencing and Biology Meeting, which the assembly technique. Gene Myers (Celera Geno- witnessed the creation of the Human Genome mics) reported on how the `double-barrelled' shot- Organization (HUGO) in 1988, should this year gun2 approach had given a signi®cant advantage to present three major advances in genomic science: the computer algorithms employed in the assembly the completion of the ®nished sequence of Droso- of the ¯y genome. The assembly system employs a phila melanogaster; the announcement that 85% of bottom-up, nucleating strategy, initially assembling the genome of Homo sapiens is now in draft small islands of sequence of high con®dence sequence; and the complete, ®nished sequence of a (diverting the assembly of repeat regions to later second human chromosome, chromosome 21. Other stages) and then searching for other sequence major sessions of the meeting focused on single (including orientation data from clone end- nucleotide polymorphisms (SNPs), ethical, legal and sequencing) to join the islands together. In addition, social implications (ELSI), as well as comparative he con®rmed a less than 0.5% error rate in the and functional genomics.
    [Show full text]
  • 9781472910042 Herding Hemingway's 1Stpass.Indb 2 9/16/2015 6:57:20 PM HERDING HEMINGWAY’ S CATS UNDERSTANDING HOW OUR GENES WORK
    Also available in the Bloomsbury Sigma series: Sex on Earth by Jules Howard p53 – The Gene that Cracked the Cancer Code by Sue Armstrong Atoms Under the Floorboards by Chris Woodford Spirals in Time by Helen Scales Chilled by Tom Jackson A is for Arsenic by Kathryn Harkup Breaking the Chains of Gravity by Amy Shira Teitel Suspicious Minds by Rob Brotherton 9781472910042_Herding Hemingway's_1stpass.indb 2 9/16/2015 6:57:20 PM HERDING HEMINGWAY ’ S CATS UNDERSTANDING HOW OUR GENES WORK Kat Arney 9781472910042_Herding Hemingway's_1stpass.indb 3 9/16/2015 6:57:20 PM Bloomsbury Sigma An imprint of Bloomsbury Publishing Plc 50 Bedford Square 1385 Broadway London New York WC1B 3DP NY 10018 UK USA www.bloomsbury.com BLOOMSBURY and the Diana logo are trademarks of Bloomsbury Publishing Plc First published 2016 Copyright © Kat Arney, 2016 Kat Arney has asserted her right under the Copyright, Designs and Patents Act, 1988, to be identifi ed as Author of this work. All rights reserved. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopying, recording, or any information storage or retrieval system, without prior permission in writing from the publishers. No responsibility for loss caused to any individual or organisation acting on or refraining from action as a result of the material in this publication can be accepted by Bloomsbury or the author. Quote on p. XXX reprinted by permission of Edward Monkton. British Library Cataloguing-in-Publication Data A catalogue record for this book is available from the British Library.
    [Show full text]
  • Adnc : Les Incontournables
    Chroniques génomiques ADNc : les incontournables par Bertrand JORDAN médecine/sciences 2001 ; 17 : 81-4 u tout début des années 1990, Redondant par principe (puisque l’on une exploitation informatique plus l’on peinait à séquencer une détermine les séquences partielles de sophistiquée, et surtout une prise de Aou deux centaines de kilobases clones pris au hasard dans des conscience de la nécessité de plani- d’ADN humain, et les résultats scien- banques d’ADNc), cet ensemble était fier une opération de « Très Grand tifiques de tels travaux apparaissaient analysé par des systèmes dénommés Séquençage » comme une entreprise assez minces par rapport aux efforts gene index* comparant toutes les sé- industrielle, aboutissaient, malgré et aux fonds investis [1]. quences afin de les regrouper en clus- l’absence d’une révolution technique ters censés représenter chacun un majeure, à rendre la lecture de méga- Les débuts des EST transcrit : c’est à partir de ces données bases d’ADN possible et presque qu’avait été faite l’estimation d’envi- abordable. Ces progrès devinrent évi- L’option des ADNc, leur déchiffrage ron 100 000 gènes humains dents pour tous avec l’obtention en partiel mais massif apparurent vite aujourd’hui très discutée [3]. L’utilité 1996 de la séquence complète de la comme une alternative réaliste au sé- des EST fut encore renforcée par la levure. Les 13 mégabases déchiffrées quençage intégral. Lancée en franc-ti- localisation d’un grand nombre constituaient de loin le plus important reur par Craig Venter [2], très large- d’entre eux sur notre génome : effec- ensemble jamais obtenu, et mon- ment médiatisée par le scandale que tuée massivement grâce à l’emploi des traient que de tels projets étaient de- soulevèrent les tentatives de brevets hybrides d’irradiation, celle-ci devait venus viables ; et l’utilité de ces don- sur ces séquences partielles, l’ap- aboutir en 1998 au positionnement de nées était attestée par la découverte proche des EST (expressed sequence plus de 30 000 étiquettes [4].
    [Show full text]
  • What Is a Gene, Post-ENCODE? History and Updated Definition
    Downloaded from genome.cshlp.org on October 2, 2021 - Published by Cold Spring Harbor Laboratory Press Perspective What is a gene, post-ENCODE? History and updated definition Mark B. Gerstein,1,2,3,9 Can Bruce,2,4 Joel S. Rozowsky,2 Deyou Zheng,2 Jiang Du,3 Jan O. Korbel,2,5 Olof Emanuelsson,6 Zhengdong D. Zhang,2 Sherman Weissman,7 and Michael Snyder2,8 1Program in Computational Biology & Bioinformatics, Yale University, New Haven, Connecticut 06511, USA; 2Molecular Biophysics & Biochemistry Department, Yale University, New Haven, Connecticut 06511, USA; 3Computer Science Department, Yale University, New Haven, Connecticut 06511, USA; 4Center for Medical Informatics, Yale University, New Haven, Connecticut 06511, USA; 5European Molecular Biology Laboratory, 69117 Heidelberg, Germany; 6Stockholm Bioinformatics Center, Albanova University Center, Stockholm University, SE-10691 Stockholm, Sweden; 7Genetics Department, Yale University, New Haven, Connecticut 06511, USA; 8Molecular, Cellular, & Developmental Biology Department, Yale University, New Haven, Connecticut 06511, USA While sequencing of the human genome surprised us with how many protein-coding genes there are, it did not fundamentally change our perspective on what a gene is. In contrast, the complex patterns of dispersed regulation and pervasive transcription uncovered by the ENCODE project, together with non-genic conservation and the abundance of noncoding RNA genes, have challenged the notion of the gene. To illustrate this, we review the evolution of operational definitions of a gene over the past century—from the abstract elements of heredity of Mendel and Morgan to the present-day ORFs enumerated in the sequence databanks. We then summarize the current ENCODE findings and provide a computational metaphor for the complexity.
    [Show full text]
  • Memoir and the Laboratory." Narrative in the Age of the Genome
    Choksey, Lara. "Memoir and the laboratory." Narrative in the Age of the Genome: . London: Bloomsbury Academic, 2021. 83–118. Bloomsbury Collections. Web. 25 Sep. 2021. <http:// dx.doi.org/10.5040/9781350102576.0009>. Downloaded from Bloomsbury Collections, www.bloomsburycollections.com, 25 September 2021, 17:03 UTC. Copyright © Lara Choksey 2021. You may share this work for non-commercial purposes only, provided you give attribution to the copyright holder and the publisher, and provide a link to the Creative Commons licence. 3 Memoir and the laboratory The Human Genome Project took place in the same decade that saw a proliferation of popular memoirs in Anglo American publishing, heaving on airport bestseller shelves and piling up on buffet tables in chain bookshops. The extension of chain bookshops from the high street to warehouse superstores in shopping parks on the outskirts of cities meant a boom for popular non-fiction. Biotechnology was also going through a moment in the sun, with billions invested in laboratories around the world working to sequence the human genome, and the bulk of funding coming from the United States. To justify massive amounts of funding, and to ensure a legacy for the project and its key players, several of the Human Genome Project’s main protagonists published science memoirs of the project. These memoirs – particularly James Watson’sDNA: The Secret of Life (2003) and J. Craig Venter’s A Life Decoded: My Genome, My Life (2007) – quickly ascended bestseller lists, sandwiched between sports stars and film actors. Venter and Watson draw techniques from the blockbuster memoir: a constant (often explicit) refrain of ‘you won’t believe what happened next’, cascading vignettes of overcoming obstacles for the sake of a higher goal, shock twists in the tale and a cast of protagonists, antagonists and commodities plucked from the thrillers and romances that competed for shelf space.
    [Show full text]
  • WHAT IS a GENE? the Idea of Genes As Beads on a DNA String Is Fast Fading
    25.5 gene MH 22/5/06 2:53 PM Page 398 NEWS FEATURE NATURE|Vol 441|25 May 2006 C DARKIN © 2006 Nature Publishing Group 25.5 gene MH 22/5/06 2:53 PM Page 399 NATURE|Vol 441|25 May 2006 NEWS FEATURE C. DARKIN WHAT IS A GENE? The idea of genes as beads on a DNA string is fast fading. Protein-coding sequences have no clear beginning or end and RNA is a key part of the information package, reports Helen Pearson. ene’ is not a typical four-letter Laurence Hurst at the University of Bath, UK. viously unimagined scope of RNA. word. It is not offensive. It is never “All of that information seriously challenges The one gene, one protein idea is coming bleeped out of TV shows. And our conventional definition of a gene,” says under particular assault from researchers who ‘Gwhere the meaning of most four- molecular biologist Bing Ren at the University are comprehensively extracting and analysing letter words is all too clear, that of gene is not. of California, San Diego. And the information the RNA messages, or transcripts, manufac- The more expert scientists become in molecu- challenge is about to get even tougher. Later tured by genomes, including the human and lar genetics, the less easy it is to be sure about this year, a glut of data will be released from mouse genome. Researchers led by Thomas what, if anything, a gene actually is. the international Encyclopedia of DNA Ele- Gingeras at the company Affymetrix in Santa Rick Young, a geneticist at the Whitehead ments (ENCODE) project.
    [Show full text]
  • The Mental Health Between Epigenetics and Individual Beliefs
    Mental Health Global Challenges XXI Century Dramnescu Marin Conference proceedings – 2018 The mental health between epigenetics and individual beliefs Dramnescu Marin Bucharest Academy of Economic Studies, Bucharest, Romania Abstract. Mental health is an integrative concept that is not limited to dysfunctions or accentuations of psychic processes or mechanisms of thought. The research effort focused on the idea that mental health is a functional optimum found at the intersection of cellular behavior, the physical environment, the external environment, with all its subtypes, the environment in which the individual manifests itself and the subjective, psychological environment, dominated mainly by unconscious behavioral routines, beliefs, values, and ultimately individual perspective on life. Mental health represents and manifests itself as an emerging process resulting from the correlated functioning of the biological, physiological, and in particular cellular mechanisms, the various, random and / or permanent influences and stimuli of the physical, social and professional environment and the superior motivational structures of the type of beliefs and individual perspective on life. Epigenetics is a contemporary discipline derived from genetics that includes the environmental context as an important part of heredity. Currently, this discipline strongly influences a variety of areas, including medicine, psychiatry and psychology. Keywords. Mental Health, Cell Behavior, Epigenetic Approach, Beliefs. 1. Introduction It is unanimously accepted that the becoming of a person is an effect of the interaction among genetic factors, environmental factors and educational factors. Their share in the individual's development differs according to the stage of the development, but their influence on mental health in particular and on the formation of personality in general is permanent and becomes manifest throughout the ontogenetic.
    [Show full text]
  • Cartilage Disease & Regeneration Genomics in Osteoarthritis
    Darryl D’Lima, M.D. The Donald P. Shiley Visiting Lectureship Wednesday, Feb. 11, 2009 Scripps Green Hospital Cartilage Disease & Regeneration Genomics in Darryl D. D’Lima, MD, PhD Osteoarthritis Clifford W. Colwell Jr, MD Shiley Center for Shiley Center for Orthopaedic Research & Education Orthopaedic Research & Education Scripps Clinic Scripps Clinic Donald P Shiley Visiting Lectureship Donald P Shiley Visiting Lectureship February 11, 2009 February 11, 2009 Genetics Single gene disorders GENOMICS – Cystic fibrosis – Huntington’s Study of genes and how genetic variations affect function and disease Multifactorial – Heart disease – Diabetes –OA Human Genome Project Human Genome Project A GENOME the complete set of DNA HUMAN GENOME ~ 3 billion pairs of nucleotides for an organism 23 pairs of chromosomes Location of each gene on the chromosome How many genes are there? (normal volunteers) 20,000 - 75,000 C. elegans GeneSweep Winner: 24,947 1 Darryl D’Lima, M.D. The Donald P. Shiley Visiting Lectureship Wednesday, Feb. 11, 2009 Scripps Green Hospital Genome Trivia Human Genome Project Chromosome 1 has the most genes = 2968 Less than 2% of the genome codes for proteins Y (Male) chromosome has the fewest = 231 The functions are unknown for over 50% of discovered genes X (Female) chromosome = 2000 Junk DNA = repeated sequences that do not code for proteins make up at least 50% of the human genome Is This JUNK? Human Genome Project O lny srmat poelpe can raed tihs. I cdnuolt blveiee taht I cluod aulaclty uesdnatnrd waht I was rdanieg. 99.9% nucleotide bases are exactly the The phaonmneal pweor of the hmuan mnid, aoccdrnig to a same in all people rscheearch at Cmabrigde Uinervtisy, it deosn't mttaer in waht oredr the ltteers in a wrod are, the olny iprmoatnt tihng is taht the frist and lsat ltteer be in the rghit pclae.
    [Show full text]
  • The Gene Guessing Game
    Yeast Yeast 2000; 17: 218±224. Review Article The gene guessing game Ian Dunham* The Sanger Centre, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK *Correspondence to: Abstract I. Dunham, The Sanger Centre, Wellcome Trust Genome A recent ¯urry of publications and media attention has revived interest in the question of Campus, Hinxton, Cambridge how many genes exist in the human genome. Here, I review the estimates and use genomic CB10 1SA, UK. sequence data from human chromosomes 21 and 22 to establish my own prediction. Copyright # 2000 John Wiley & Sons, Ltd. Keywords: human genome; genes; DNA sequence; chromosome 22; EST Introduction functional RNAs are essential to the cell, it is the protein-coding genes that concern most gene coun- How many genes are there in the human genetic ters [4,10]. Mostly this is because the protein-coding parts list? Forget the 5 year plans [19] and the press genes must contain the bulk of the functionality and releases [18] Ð the end of the human genome therefore interest, but in part it is also because it is project will come when we have an accurate answer thought that they might be easier to count. Of to this question. Sure, there will be a few tens or course, we all know what we mean by a protein- maybe even hundreds not identi®ed, and perhaps coding gene. However these genes have a number of we won't have the full structure of every gene, but methods to increase complexity from a single region we will have a pretty good idea of how many genes of DNA, including alternative use of promoters, there are.
    [Show full text]
  • Individualized Nutritional Recommendations: Do We Have the Measurements Needed to Assess Risk and Make Dietary Recommendations?
    Proceedings of the Nutrition Society (2004), 63, 167–172 DOI:10.1079/PNS2003325 g The Author 2004 The Summer Meeting of the Nutrition Society was held at King’s College, London on 7–10 July 2003 Symposium on ‘Implications for dietary guidelines of genetic influences on requirements’ Individualized nutritional recommendations: do we have the measurements needed to assess risk and make dietary recommendations? Lenore Arab School of Public Health, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599, USA Is the information currently available to adjust nutritional recommendations and develop individualized nutrition? No. There is not even the information needed for setting dietary recommendations with confidence now at the group level. Will it be available soon? The answer to this question depends on the drive and will of the nutritional community, the success in recruiting funding to the area, the education of nutritionists and the spawning of great ideas and approaches. The emerging tools of genomics, proteomics and metabolomics are enabling the in-depth study of relationships between diet, genetics and metabolism. The advent of technologies can be compared with the discovery of the microscope and the new dimensions of scientific visualization enabled by that discovery. Nutritionists stand at the crest of new waves of data that can be generated, and new methods for their digestion will be required. To date, the study of dietary requirements has been based largely on a black box approach. Subjects are supplemented or depleted and clinical outcomes are observed. Few recommen- dations are based on metabolic outcomes. Metabolomics and nutrigenomics promise tools with which recommendations can be refined to meet individual requirements and the potential of individualized nutrition can be explored.
    [Show full text]
  • Decoding the Human Genome
    Downloaded from genome.cshlp.org on September 6, 2012 - Published by Cold Spring Harbor Laboratory Press Decoding the human genome Kelly A. Frazer Genome Res. 2012 22: 1599-1601 Access the most recent version at doi:10.1101/gr.146175.112 To subscribe to Genome Research go to: http://genome.cshlp.org/subscriptions © 2012, Published by Cold Spring Harbor Laboratory Press ThisReceiveFreelyEmail Openarticle availableReferences freeCreative alertingcitesisAccess emaildistributed online14 alertsarticles, through exclusivelywhen 9 of thenew which Genome articlesby canCold be citeResearchSpring accessed this Harborarticle Open free -Laboratory sign Accessat: up inoption. thePress box at the http://genome.cshlp.org/content/22/9/1599.full.html#ref-list-1topfor theright first Commonscorner sixservice months of the articleafter the or clickfull-issue here publication date (see http://genome.cshlp.org/site/misc/terms.xhtmlLicense ). After six months, it is available under a Creative Commons License (Attribution-NonCommercial 3.0 Unported License), as described at http://creativecommons.org/licenses/by-nc/3.0/. Downloaded from genome.cshlp.org on September 6, 2012 - Published by Cold Spring Harbor Laboratory Press To subscribe to Genome Research go to: http://genome.cshlp.org/subscriptions © 2012, Published by Cold Spring Harbor Laboratory Press WhatRelated does Content our genome encode? John A. Stamatoyannopoulos Genome Res. September , 2012 22: 1602-1611 GENCODE: The reference human genome annotation for The ENCODE Project Jennifer Harrow, Adam Frankish, Jose M. Gonzalez, et al. Genome Res. September , 2012 22: 1760-1774 Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome Cédric Howald, Andrea Tanzer, Jacqueline Chrast, et al.
    [Show full text]