A PNAS paper published MondayÂ demonstrates the kinds of insights that can be gleaned from a large scale sequencing project examining the fragile X gene.
Most children (boys, usually) who have fragile X syndrome have a particular mutation. An expanded â€œtriplet repeatâ€ stretch of DNA, which is outside the protein-coding region of the gene, puts the entire gene to sleep.
At Emory,Â geneticist Steve Warren, cell biologist Gary Bassell and colleagues have been identifying less common changesÂ in the fragile X gene by looking in boys who are developmentally delayed, but donâ€™t have the triplet repeat expansion. The first author of the paper is former postdoc Joshua Suhl, now at Booz Allen Hamilton in Massachusetts.
The authors describe two half-brothers who have the same genetic variant, which changes how production of the FMRP protein is regulated.Â These examples show that the fragile X gene is so central to how neurons function that several kinds of geneticÂ glitches in it can make this finely tuned machine break down.
â€œThis is a hot area and not much is known about it,â€ Warren says. Read more