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MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome


Meckel syndrome (MKS) is a severe fetal developmental disorder reported in most populations. The clinical hallmarks are occipital meningoencephalocele, cystic kidney dysplasia, fibrotic changes of the liver and polydactyly. Here we report the identification of a gene, MKS1, mutated in MKS families linked to 17q. Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS. Comparative genomics and proteomics data implicate MKS1 in ciliary functions.

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Figure 1: In situ hybridization analysis of Mks1 expression in mouse embryos.


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We thank the families for participating in the study and thank all the scientists, clinicians and genetic counselors for their collaboration in the MKS project. The work was supported by a Finnish Cultural Foundation grant to M. Kyttälä and an Academy of Finland grant to M. Kestilä. L. Peltonen was supported by a grant from the US National Institutes of Health, a grant from the Center of Excellence in Disease Genetics (the Academy of Finland) and the Biocentrum Helsinki.

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Correspondence to Leena Peltonen.

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The authors declare no competing financial interests.

Supplementary information

Supplementary Fig. 1

Haplotypes in Finnish MKS chromosomes, the critical chromosomal region and the genomic structure of MKS1. (PDF 205 kb)

Supplementary Fig. 2

The mutation analysis of MKS1. (PDF 217 kb)

Supplementary Fig. 3

MKS1 peptide sequence comparison between species. (PDF 380 kb)

Supplementary Methods (PDF 189 kb)

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Kyttälä, M., Tallila, J., Salonen, R. et al. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat Genet 38, 155–157 (2006).

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