MKS1

MKS1
Identifiers
Aliases MKS1, BBS13, MES, MKS, POC12, Meckel syndrome, type 1
External IDs MGI: 3584243 HomoloGene: 9833 GeneCards: MKS1
Orthologs
Species Human Mouse
Entrez

54903

380718

Ensembl

ENSG00000011143

ENSMUSG00000034121

UniProt

Q9NXB0

Q5SW45

RefSeq (mRNA)

NM_001165927
NM_017777
NM_001321268
NM_001321269

NM_001039684

RefSeq (protein)

NP_001159399.1
NP_060247.2
NP_001308197.1
NP_001308198.1

NP_001034773.2

Location (UCSC) Chr 17: 58.21 – 58.22 Mb Chr 11: 87.85 – 87.86 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Meckel syndrome, type 1 also known as MKS1 is a protein that in humans is encoded by the MKS1 gene.[3]

Function

The MKS1 protein along with meckelin are part of the flagellar apparatus basal body proteome and are required for cilium formation.[4]

Clinical significance

Mutations in the MKS1 are associated with Meckel syndrome[3][5] or Bardet-Biedl syndrome.[6]

Model organisms

Model organisms have been used in the study of MKS1 function. A conditional knockout mouse line, called Mks1tm1a(EUCOMM)Wtsi[11][12] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[13][14][15]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[9][16] Twenty five tests were carried out on mutant mice and two significant abnormalities were observed.[9] The homozygous mutant embryos identified during gestation had polydactyly, oedema and eye or craniofacial defects. None survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice and no further abnormalities were observed.[9]

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  3. 1 2 Kyttälä M, Tallila J, Salonen R, Kopra O, Kohlschmidt N, Paavola-Sakki P, Peltonen L, Kestilä M (February 2006). "MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome". Nat. Genet. 38 (2): 155–7. doi:10.1038/ng1714. PMID 16415886.
  4. ↑ Dawe HR, Smith UM, Cullinane AR, Gerrelli D, Cox P, Badano JL, Blair-Reid S, Sriram N, Katsanis N, Attie-Bitach T, Afford SC, Copp AJ, Kelly DA, Gull K, Johnson CA (January 2007). "The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation". Hum. Mol. Genet. 16 (2): 173–86. doi:10.1093/hmg/ddl459. PMID 17185389.
  5. ↑ Consugar MB, Kubly VJ, Lager DJ, Hommerding CJ, Wong WC, Bakker E, Gattone VH, Torres VE, Breuning MH, Harris PC (June 2007). "Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3". Hum. Genet. 121 (5): 591–9. doi:10.1007/s00439-007-0341-3. PMID 17377820.
  6. ↑ Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Al-Fadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N (April 2008). "Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome". Nat. Genet. 40 (4): 443–8. doi:10.1038/ng.97. PMID 18327255.
  7. ↑ "Salmonella infection data for Mks1". Wellcome Trust Sanger Institute.
  8. ↑ "Citrobacter infection data for Mks1". Wellcome Trust Sanger Institute.
  9. 1 2 3 4 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
  10. ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  11. ↑ "International Knockout Mouse Consortium".
  12. ↑ "Mouse Genome Informatics".
  13. ↑ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410Freely accessible. PMID 21677750.
  14. ↑ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  15. ↑ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  16. ↑ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837Freely accessible. PMID 21722353.

Further reading

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