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IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.

Abstract：

:The short-rib polydactyly syndromes (SRPS) encompass a radiographically and genetically heterogeneous group of skeletal ciliopathies that are characterized by a long narrow chest, short extremities, and variable occurrence of polydactyly. Radiographic abnormalities include undermineralization of the calvarium, shortened and bowed appendicular bones, trident shaped acetabula and polydactyly. In a case of SRPS we identified compound heterozygosity for mutations in IFT52, which encodes a component of the anterograde intraflagellar transport complex. The IFT52 mutant cells synthesized a significantly reduced amount of IFT52 protein, leading to reduced synthesis of IFT74, IFT81, IFT88 and ARL13B, other key anterograde complex members. Ciliogenesis was also disrupted in the mutant cells, with a 60% reduction in the presence of cilia on mutant cells and loss of cilia length regulation for the cells with cilia. These data demonstrate that IFT52 is essential for anterograde complex integrity and for the biosynthesis and maintenance of cilia. The data identify a new locus for SRPS and show that IFT52 mutations result in a ciliopathy with primary effects on the skeleton.

journal_name

Hum Mol Genet

journal_title

Human molecular genetics

authors

Zhang W,Taylor SP,Nevarez L,Lachman RS,Nickerson DA,Bamshad M,University of Washington Center for Mendelian Genomics Consortium.,Krakow D,Cohn DH

doi

10.1093/hmg/ddw241

subject

Has Abstract

pub_date

2016-09-15 00:00:00

pages

4012-4020

issue

18

eissn

0964-6906

issn

1460-2083

pii

ddw241

journal_volume

25

pub_type

杂志文章

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