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Gene Review

HYDIN  -  HYDIN, axonemal central pair apparatus...

Homo sapiens

 
 
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Disease relevance of HYDIN

 

High impact information on HYDIN

  • Hydin consists of at least 86 exons spanning over 340 kb of genomic DNA [3].
  • Direct cDNA selection performed on a wild-type mouse BAC clone spanning the OVE459 insertion locus on chromosome 8 led to the identification of two novel candidate genes, Hydin and Vac14 [3].
  • Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene [3].
  • Other sites of Hydin expression include the ciliated epithelial cells lining the bronchi and oviduct, as well as in the developing spermatocytes in the testis [3].
  • A single CG base-pair deletion in exon 15 of Hydin was discovered specifically in mice carrying the spontaneous hy3 mutant allele [3].
 

Biological context of HYDIN

  • We have found that the human HYDIN locus has been very recently duplicated, with a nearly identical 360-kb paralogous segment inserted on chromosome 1q21 [1].
  • Elucidation of the role of HYDIN in human disease susceptibility will require careful discrimination among the paralogous copies [1].
  • The transgene insertion resulted in a rearrangement of Hydin exons in OVE459 mice [3].
 

Anatomical context of HYDIN

  • Within the neonatal brain, Hydin expression is confined to the ciliated ependymal cell layer lining the lateral, third and fourth ventricles [3].
 

Other interactions of HYDIN

  • In testis and ependymal primary cultures, Wdr16 messenger RNA appears concomitantly with the messages for sperm-associated antigen 6, a kinocilia marker, and for hydin, a protein linked to ciliary function and hydrocephalus [4].

References

  1. A 360-kb interchromosomal duplication of the human HYDIN locus. Doggett, N.A., Xie, G., Meincke, L.J., Sutherland, R.D., Mundt, M.O., Berbari, N.S., Davy, B.E., Robinson, M.L., Rudd, M.K., Weber, J.L., Stallings, R.L., Han, C. Genomics (2006) [Pubmed]
  2. A novel domain suggests a ciliary function for ASPM, a brain size determining gene. Ponting, C.P. Bioinformatics (2006) [Pubmed]
  3. Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene. Davy, B.E., Robinson, M.L. Hum. Mol. Genet. (2003) [Pubmed]
  4. Biosynthesis of Wdr16, a marker protein for kinocilia-bearing cells, starts at the time of kinocilia formation in rat, and wdr16 gene knockdown causes hydrocephalus in zebrafish. Hirschner, W., Pogoda, H.M., Kramer, C., Thiess, U., Hamprecht, B., Wiesmüller, K.H., Lautner, M., Verleysdonk, S. J. Neurochem. (2007) [Pubmed]
 
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