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

Mira Kyttälä; Jonna Tallila; Riitta Salonen; Outi Kopra; Nicolai Kohlschmidt; Paulina Paavola-Sakki; Leena Peltonen; Marjo Kestilä

doi:10.1038/ng1714

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

Mira Kyttälä
, Jonna Tallila
, Riitta Salonen
, Outi Kopra
, Nicolai Kohlschmidt
, Paulina Paavola-Sakki
, Leena Peltonen
, Marjo Kestilä

Avdelningen för medicinsk genetik och klinisk genetik

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Sammanfattning

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.

Originalspråk	engelska
Tidskrift	Nature Genetics
Volym	38
Nummer	2
Sidor (från-till)	155-157
Antal sidor	3
ISSN	1061-4036
DOI	https://doi.org/10.1038/ng1714
Status	Publicerad - 2006
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Åtkomst av dokument

10.1038/ng1714

Citera det här

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

abstract = "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.",

author = "Mira Kytt{\"a}l{\"a} and Jonna Tallila and Riitta Salonen and Outi Kopra and Nicolai Kohlschmidt and Paulina Paavola-Sakki and Leena Peltonen and Marjo Kestil{\"a}",

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T1 - MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

AU - Kyttälä, Mira

AU - Tallila, Jonna

AU - Salonen, Riitta

AU - Kopra, Outi

AU - Kohlschmidt, Nicolai

AU - Paavola-Sakki, Paulina

AU - Peltonen, Leena

AU - Kestilä, Marjo

PY - 2006

Y1 - 2006

N2 - 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.

AB - 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.

U2 - 10.1038/ng1714

DO - 10.1038/ng1714

M3 - Article

SN - 1061-4036

VL - 38

SP - 155

EP - 157

JO - Nature Genetics

JF - Nature Genetics

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