| RRC ID |
46155
|
| 著者 |
Liu L, Zhang M, Xia Z, Xu P, Chen L, Xu T.
|
| タイトル |
Caenorhabditis elegans ciliary protein NPHP-8, the homologue of human RPGRIP1L, is required for ciliogenesis and chemosensation.
|
| ジャーナル |
Biochem Biophys Res Commun
|
| Abstract |
Nephronophthisis (NPHP) is the most frequent genetic cause of end-stage renal failure in children and young adults. NPHP8/RPGRIP1L is a novel ciliary gene that, when mutated, in addition to causing NPHP, also causes Joubert syndrome (JBTS) and Meckel syndrome (MKS). The exact function of NPHP8 and how defects in NPHP8 lead to human diseases are poorly understood. Here, we studied the Caenorhabditis elegans homolog nphp-8 (C09G5.8) and explored the possible function of NPHP-8 in ciliated sensory neurons. We determined the gene structure of nphp-8 through rapid amplification of cDNA ends (RACE) analysis and discovered an X-box motif that had been previously overlooked. Moreover, NPHP-8 co-localized with NPHP-4 at the transition zone at the base of cilia. Mutation of nphp-8 led to abnormal dye filling (Dyf) and shorter cilia lengths in a subset of ciliary neurons. In addition, chemotaxis to several volatile attractants was significantly impaired in nphp-8 mutants. Our data suggest that NPHP-8/RPGRIP1L plays an important role in cilia formation and cilia-mediated chemosensation in a cell type-specific manner.
|
| 巻・号 |
410(3)
|
| ページ |
626-31
|
| 公開日 |
2011-7-8
|
| DOI |
10.1016/j.bbrc.2011.06.041
|
| PII |
S0006-291X(11)00999-5
|
| PMID |
21689635
|
| MeSH |
Adaptor Proteins, Signal Transducing / genetics
Adaptor Proteins, Signal Transducing / physiology
Animals
Caenorhabditis elegans / genetics
Caenorhabditis elegans / metabolism
Caenorhabditis elegans / physiology*
Chemotaxis*
Cilia / genetics
Cilia / metabolism
Cilia / physiology
Humans
Kidney Diseases, Cystic / congenital
Kidney Diseases, Cystic / genetics
Mutation
Proteins / genetics
Proteins / metabolism*
Sequence Homology, Amino Acid
|
| IF |
2.985
|
| 引用数 |
11
|
|
WOS 分野
|
BIOPHYSICS
BIOCHEMISTRY & MOLECULAR BIOLOGY
|
| リソース情報 |
| 線虫 |
tm925
tm3100 |
