( d muscles as well as genes that control...)Cornell finds natural selection in humans

d muscles as well as genes that control traffic in and out of the cell. These mutations are subject to weak negative selection, according to the study. In general, negative selection eliminates from the population very harmful changes to proteins that kill or stop reproduction. But mutations that have led to slightly deleterious versions of the gene -- mutations that may cause disease or only slightly reduce the average number of children left by those that carried the mutation -- can by chance become quite common in the population.

The authors also found a correlation between genes predicted to be under negative selection and genes implicated in certain hereditary diseases. For example, among the genes the researchers predicted to be under negative selection are those involved in muscular dystrophy and in Usher syndrome, the most common cause of congenital blindness and deafness in developed countries.

"We have a long way to go before we can predict from looking at sequences, which mutations in which genes and under which environmental conditions can ultimately lead to disease. This is a first step in identifying the classes of genes that appear to be particularly vulnerable to these types of changes," said Bustamante.

A team from Celera initiated the project and sequenced more than 20,000 genes in 39 humans and a chimpanzee. By comparing the DNA sequences of the 39 human subjects across the 20,000 genes, the Celera researchers identified DNA sites in the genome where individuals in the sample differed from one another. The chimpanzee sequence was then used to identify which form of the gene was the original ancestral form and which was the derived or new type. The original goal of the project was to identify novel amino acid variants that could then be tested for association with human disease in subsequent studies. The Cornell researchers became involved at the analysis stage in order to make predictions about what types of changes are
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Source:Cornell University News Service

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