| First Author | Chae TH | Year | 2004 |
| Journal | Nat Genet | Volume | 36 |
| Issue | 3 | Pages | 264-70 |
| PubMed ID | 14758363 | Mgi Jnum | J:88495 |
| Mgi Id | MGI:3033551 | Doi | 10.1038/ng1302 |
| Citation | Chae TH, et al. (2004) The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate. Nat Genet 36(3):264-70 |
| abstractText | 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. |
