NEWS 19 JUNE 2018
New human gene tally reignites debate
Some fifteen years after the human genome was sequenced, researchers still can’t agree on how many genes it contains.
Cassandra Willyard
One of the earliest attempts to estimate the number of genes in the human genome involved tipsy geneticists, a bar in Cold Spring Harbor, New York, and pure guesswork.
That was in 2000, when a draft human genome sequence was still in the works; geneticists were running a sweepstake on how many genes humans have, and wagers ranged from tens of thousands to hundreds of thousands. Almost two decades later, scientists armed with real data still can’t agree on the number — a knowledge gap that they say hampers efforts to spot disease-related mutations.
The latest attempt to plug that gap uses data from hundreds of human tissue samples and was posted on the BioRxiv preprint server on 29 May1. It includes almost 5,000 genes that haven’t previously been spotted — among them nearly 1,200 that carry instructions for making proteins. And the overall tally of more than 21,000 protein-coding genes is a substantial jump from previous estimates, which put the figure at around 20,000.
But many geneticists aren’t yet convinced that all the newly proposed genes will stand up to close scrutiny. Their criticisms underscore just how difficult it is to identify new genes, or even define what a gene is.
“People have been working hard at this for 20 years, and we still don’t have the answer,” says Steven Salzberg, a computational biologist at Johns Hopkins University in Baltimore, Maryland, whose team produced the latest count.
Hard to pin down
In 2000, with the genomics community abuzz over the question of how many human genes would be found, Ewan Birney launched the GeneSweep contest. Birney, now co-director of the European Bioinformatics Institute (EBI) in Hinxton, UK, took the first bets at a bar during an annual genetics meeting, and the contest eventually attracted more than 1,000 entries and a US$3,000 jackpot. Bets on the number of genes ranged from more than 312,000 to just under 26,000, with an average of around 40,000. These days, the span of estimates has shrunk — with most now between 19,000 and 22,000 — but there is still disagreement (See 'Gene Tally').
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FREE PDF GRATIS: Nature
