Abstract:
:Homozygous inv mice lack a functional inversin protein and exhibit situs inversus plus severe cystic changes in the kidney and pancreas. Although the inversin sequence has provided few clues to its function, we and others have previously identified calmodulin as a binding partner. We now provide evidence that inversin interacts with the anaphase promoting complex protein Apc2. As expected of an Apc2 target, inversin possesses D-boxes and site-directed mutagenesis of the well-conserved D-box residues abrogates inversin-Apc2 interaction. An inversin-specific antibody reveals a dynamic expression pattern throughout the cell cycle and strong expression in the primary cilia of renal epithelium. Our data support a role for inversin in primary cilia and involvement in the cell cycle. Mutations of the proteins polaris, cystin and polycystin-2 which are expressed in renal epithelium primary cilia, lead to renal cystic changes. Aberrant cell proliferation is also involved in cyst development. The data reported here suggest that inversin may provide a link between these two mechanisms.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Morgan D,Eley L,Sayer J,Strachan T,Yates LM,Craighead AS,Goodship JAdoi
10.1093/hmg/11.26.3345subject
Has Abstractpub_date
2002-12-15 00:00:00pages
3345-50issue
26eissn
0964-6906issn
1460-2083journal_volume
11pub_type
杂志文章abstract::Psoriasis is an immune-mediated skin disorder that is inherited as a multifactorial trait. Linkage studies have clearly identified a primary disease susceptibility locus lying within the major histocompatibility complex (MHC), but have generated conflicting results for other genomic regions. To overcome this difficult...
journal_title:Human molecular genetics
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doi:
更新日期:2003-03-15 00:00:00
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doi:10.1093/hmg/3.5.801
更新日期:1994-05-01 00:00:00
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更新日期:2016-03-01 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddn409
更新日期:2009-03-01 00:00:00
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pub_type: 杂志文章
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更新日期:2012-02-15 00:00:00
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更新日期:2011-12-01 00:00:00
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pub_type: 杂志文章,meta分析
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pub_type: 杂志文章,评审
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