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Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.

Abstract：

:X-linked lissencephaly and "double cortex" are allelic human disorders mapping to Xq22.3-Xq23 associated with arrest of migrating cerebral cortical neurons. We identified a novel 10 kb brain-specific cDNA interrupted by a balanced translocation in an XLIS patient that encodes a novel 40 kDa predicted protein named Doublecortin. Four double cortex/X-linked lissencephaly families and three sporadic double cortex patients show independent doublecortin mutations, at least one of them a de novo mutation. Doublecortin contains a consensus Abl phosphorylation site and other sites of potential phosphorylation. Although Doublecortin does not contain a kinase domain, it is homologous to the amino terminus of a predicted kinase protein, indicating a likely role in signal transduction. Doublecortin, along with the newly characterized mDab1, may define an Abl-dependent pathway regulating neuronal migration.

journal_name

Cell

journal_title

Cell

authors

Gleeson JG,Allen KM,Fox JW,Lamperti ED,Berkovic S,Scheffer I,Cooper EC,Dobyns WB,Minnerath SR,Ross ME,Walsh CA

doi

10.1016/s0092-8674(00)80899-5

subject

Has Abstract

pub_date

1998-01-09 00:00:00

pages

63-72

issue

1

eissn

0092-8674

issn

1097-4172

pii

S0092-8674(00)80899-5

journal_volume

92

pub_type

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