RGD Reference Report - The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate. - Rat Genome Database

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The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate.

Authors: Chae, TH  Kim, S  Marz, KE  Hanson, PI  Walsh, CA 
Citation: Chae TH, etal., Nat Genet 2004 Mar;36(3):264-70. Epub 2004 Feb 1.
RGD ID: 1358388
Pubmed: PMID:14758363   (View Abstract at PubMed)
DOI: DOI:10.1038/ng1302   (Journal Full-text)

The hyh (hydrocephalus with hop gait) mouse shows a markedly small cerebral cortex at birth and dies postnatally from progressive enlargement of the ventricular system. Here we show that the small hyh cortex reflects altered cell fate. Neural progenitor cells withdraw prematurely from the cell cycle, producing more early-born, deep-layer cerebral cortical neurons but depleting the cortical progenitor pool, such that late-born, upper-layer cortical neurons are underproduced, creating a small cortex. hyh mice carry a hypomorphic missense mutation in the gene Napa encoding soluble N-ethylmaleimide-sensitive factor (NSF) attachment protein alpha (alpha Snap), involved in SNAP receptor (SNARE)-mediated vesicle fusion in many cellular contexts. A targeted null Napa mutation is embryonically lethal. Altered neural cell fate is accompanied by abnormal localization of many apical proteins implicated in regulation of neural cell fate, including E-cadherin, beta-catenin, atypical protein kinase C (aPKC) and INADL (inactivation-no-afterpotential D-like, also known as protein associated with Lin7, or Pals1). Apical localization of the SNARE Vamp7 is also disrupted. Thus, alpha Snap is essential for apical protein localization and cell fate determination in neuroepithelial cells.

Objects referenced in this article
Gene Dcx doublecortin Mus musculus
Gene Lmx1a LIM homeobox transcription factor 1 alpha Mus musculus
Gene Napa N-ethylmaleimide sensitive fusion protein attachment protein alpha Mus musculus
Gene Napb N-ethylmaleimide sensitive fusion protein attachment protein beta Mus musculus
Gene Napg N-ethylmaleimide sensitive fusion protein attachment protein gamma Mus musculus
Gene Patj PATJ, crumbs cell polarity complex component Mus musculus
Gene Pou3f3 POU domain, class 3, transcription factor 3 Mus musculus
Gene Prkci protein kinase C, iota Mus musculus
Gene Vamp7 vesicle-associated membrane protein 7 Mus musculus
Gene Napa NSF attachment protein alpha Rattus norvegicus

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