GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.

Have any questions? Please email us at ecoliwiki@gmail.com

PMID:14758363

From GONUTS
Jump to: navigation, search
Citation

Chae, TH, Kim, S, Marz, KE, Hanson, PI and Walsh, CA (2004) The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate. Nat. Genet. 36:264-70

Abstract

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.

Links

PubMed Online version:10.1038/ng1302

Keywords

Animals; Carrier Proteins/physiology; Hydrocephalus/genetics; Membrane Proteins/physiology; Mice; Mice, Mutant Strains; Mutation; Neurons/physiology; Soluble N-Ethylmaleimide-Sensitive Factor Attachment Proteins; Vesicular Transport Proteins

Significance

Annotations

Gene product Qualifier GO ID GO term name Evidence Code with/from Aspect Notes Status


See also

References

See Help:References for how to manage references in GONUTS.