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HYDIN (Hydrocephalus inducing homolog)
Hydrocephalus inducing homolog (HYDIN) is involved in cilia motility in the brain. Defects in the Hydin gene lead to impaired fluid flow in the brain resulting in hydrocephalus. The HYDIN gene has been duplicated in the human lineage from its original position at 16q22.2 to the 1q21.1 region. It has been hypothesized that HYDIN may have a role in human brain size.
Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J; 1000 Genomes Project, Eichler EE. Diversity of human copy number variation and multicopy genes. Science. 2010 Oct 29;330(6004):641-6. PMID:21030649
Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 Dec;40(12): 1466-71.PMID: 19029900
Lechtreck KF, Delmotte P, Robinson ML, Sanderson MJ, Witman GB. Mutations in Hydin impair ciliary motility in mice. J Cell Biol. 2008 Feb 11;180(3):633-43. Epub 2008 Feb 4. PMID: 18250199
Doggett NA, Xie G, Meincke LJ, Sutherland RD, Mundt MO, Berbari NS, Davy BE, Robinson ML, Rudd MK, Weber JL, Stallings RL, Han C. (2006) A 360-kb interchromosomal duplication of the human HYDIN locus. Genomics. 88(6):762-71. PMID: 16938426

