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DNAI1

MIM.604366 9p21-p13

Tuesday 24 July 2007

The DNAI1 gene encodes a 699-amino acid protein. Northern blot analysis detected a specific and abundant DNAI1 transcript of approximately 2.5 kb in adult trachea and testis and an additional weakly expressed DNAI1 transcript of approximately 4 kb in trachea.

Pathology

- germline mutations in

  • heterotaxia
  • immotile cilia syndrome type 1 (IVS1DS) (MIM.242650)
  • Kartagener syndrome (MIM.244400)

References

- Guichard, C.; Harricane, M.-C.; Lafitte, J.-J.; Godard, P.; Zaegel, M.; Tack, V.; Lalau, G.; Bouvagnet, P. : Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). Am. J. Hum. Genet. 68: 1030-1035, 2001. PubMed ID : #11231901#

- Pennarun, G.; Escudier, E.; Chapelin, C.; Bridoux, A.-M.; Cacheux, V.; Roger, G.; Clement, A.; Goossens, M.; Amselem, S.; Duriez, B. :
Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. Am. J. Hum. Genet. 65: 1508-1519, 1999. PubMed ID : #10577904#