Pufferfish genome will help scientists understand human disease

A poisonous fish, eaten as a delicacy in Japan, may hold the key to decoding the human genome, said MRC researchers in Cambridge, UK.

An international consortium of scientists from Cambridge, California and Singapore have finished the first draft of the genome of the pufferfish (fugu rubripes). Although a lot of the human genome has been sequenced, much of it remains a mystery because of the difficulty in identifying genes, and the key DNA sequences needed to control them amongst a sea of intervening DNA.

The pufferfish is only the second vertebrate animal genome to be sequenced and, like the mouse, has approximately the same number of genes as a human. Therefore, a particular gene in the fish may decide where fins are placed and what they look like, while a very similar gene sequence may be present in humans, but acts slightly differently to produce a leg.

The great advantage of the pufferfish genome is that it is a staggering eight times more compact than the human. Four hundred and fifty million years of evolution have conserved vital gene sequences, without accumulating large stretches of DNA between them. Therefore, when compared to the human sequence, important regions are quickly highlighted. This allows scientists to identify genes and will have direct application to understanding and treating human diseases.

Dr Greg Elgar from the MRC UK Human Genome Mapping Resource Centre, is currently completing a map of the genome. His group compares the information from the pufferfish and human genomes as a way of increasing scientists' knowledge of genes and disease.

He said: "Finishing the draft sequence of the pufferfish genome is the culmination of a decade of research and we're very excited about the implications this has for human disease. This information will have enormous benefits to scientists working on the human genome and will certainly be instrumental in the fight against genetic disease."