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Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.

Abstract：

:Meckel syndrome (MKS) is a lethal malformation disorder characterized classically by encephalocele, polycystic kidneys, and polydactyly. MKS is also one of the major contributors to syndromic neural tube defects (NTDs). Recent findings have shown primary cilia dysfunction in the molecular background of MKS, indicating that cilia are critical for early human development. However, even though four genes behind MKS have been identified to date, they elucidate only a minor proportion of the MKS cases. In this study, instead of traditional linkage analysis, we selected 10 nonrelated affected fetuses and looked for the homozygous regions shared by them. Based on this strategy, we identified the sixth locus and the fifth gene, CC2D2A (MKS6), behind MKS. The biological function of CC2D2A is uncharacterized, but the corresponding polypeptide is predicted to be involved in ciliary functions and it has a calcium binding domain (C2). Immunofluorescence staining of patient's fibroblast cells demonstrates that the cells lack cilia, providing evidence for the critical role of CC2D2A in cilia formation. Our finding is very significant not only to understand the molecular background of MKS, but also to obtain additional information about the function of the cilia, which can help to understand their significance in normal development and also in other ciliopathies, which are an increasing group of disorders with overlapping phenotypes.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Tallila J,Jakkula E,Peltonen L,Salonen R,Kestilä M

doi

10.1016/j.ajhg.2008.05.004

subject

Has Abstract

pub_date

2008-06-01 00:00:00

pages

1361-7

issue

6

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(08)00312-1

journal_volume

82

pub_type

杂志文章

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