Human Gene Set Shrinks Again

Proteomic data suggest the human genome may encode fewer than 20,000 genes.

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WIKIMEDIA, WEBRIDGEAn analysis of proteomic data from seven studies suggests the human genome contains fewer than 20,000 protein-coding genes, 1,700 fewer than previously predicted. The results, published last month (June 16) in Human Molecular Genetics and posted last year on arXiv.org, also show little evidence of protein expression for more evolutionarily recent genes that can only be traced back to primate lineages.

The protein-coding region of the human genome has been shrinking since its discovery. The first sequences published in 2001 predicted 26,000—30,000 genes; a recent evolutionary comparison suggested the number was closer to 20,500. Now, that number might be reduced to approximately 19,000.

According to the Physics arXiv Blog, written in January, “That’s an interesting result that is partly a reflection of the state of genomics. The human genome is by no means fully defined and biologists are still in the process of refining their gene models and withdrawing genes in the process.”

"The coding part of the genome [which produces proteins] is constantly moving," lead author Alfonso Valencia of the Spanish National Cancer Research Centre said in a statement. "No one could have imagined a ...

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