Science and thirty points… and the weight goes up and up! Tvb


Human CHN1 Mutations Hyperactivate {alpha}2-Chimaerin and Cause Duane’s Retraction Syndrome.

Duane’s retraction syndrome (DRS) is a complex congenital eye movement disorder caused by aberrant innervation of the extraocular muscles by axons of brainstem motor neurons. Studying families with a variant form of the disorder (DURS2-DRS), we have identified causative heterozygous missense mutations in CHN1, a gene on chromosome 2q31 that encodes {alpha}2-chimaerin, a RacGAP signaling protein previously implicated in the pathfinding of corticospinal axons in mice. We show that these are gain-of-function mutations that increase {alpha}2-chimaerin RacGAP activity in vitro. Several of the mutations appear to enhance {alpha}2-chimaerin translocation to the cell membrane or enhance its ability to self-associate. Expression of mutant {alpha}2-chimaerin constructs in chick embryos resulted in failure of oculomotor axons to innervate their target extraocular muscles. We conclude that {alpha}2-chimaerin has a critical developmental function in ocular motor axon pathfinding.

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Una Risposta to “Science and thirty points… and the weight goes up and up! Tvb”

  1. Mara Says:

    ..sei un tesoro.. W SCIENCE!!
    🙂

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