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Comment
. 2006 Nov 7;103(45):16621-2.
doi: 10.1073/pnas.0608027103. Epub 2006 Oct 30.

A surprising METamorphosis: autism genetics finds a common functional variant

Matthew W State  1
Affiliations
Comment

A surprising METamorphosis: autism genetics finds a common functional variant

Matthew W State. Proc Natl Acad Sci U S A. .
No abstract available

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Fig. 1.
Fig. 1.
Campbell et al. (6) report the association of a G>C common promoter variant (green vertical bar) 20 bp 5′ to the transcription start site of MET. In vitro analyses show that the substitution leads to a 2-fold decrease in transcription and reduced binding affinity for SP1 and PC4 transcription factors. The MET transcript codes for a receptor tyrosine kinase, composed of α- and β-subunits, which form a homodimer capable of binding to the ligand, hepatocyte growth factor/scatter factor (HGF/SF). HGF binding results in phosphorylation of multiple tyrosine residues located within and outside the intracellular kinase domains. The downstream signaling cascade has been shown to involve a wide range of docking molecules, and MET activation results in pleotrophic effects, including those listed on the figure. The manner in which decreased expression of MET mRNA may lead to autism spectrum disorders (the cardinal features of which are shown in the blue circles) is not known.
See this image and copyright information in PMC

Comment on

  • A genetic variant that disrupts MET transcription is associated with autism.
    Campbell DB, Sutcliffe JS, Ebert PJ, Militerni R, Bravaccio C, Trillo S, Elia M, Schneider C, Melmed R, Sacco R, Persico AM, Levitt P. Campbell DB, et al. Proc Natl Acad Sci U S A. 2006 Nov 7;103(45):16834-9. doi: 10.1073/pnas.0605296103. Epub 2006 Oct 19. Proc Natl Acad Sci U S A. 2006. PMID: 17053076 Free PMC article.

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