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Editor's Notes

from literature on

Harmonin (USH1C)

 Editor's Notes

Recent update from: 20.08.2002

USH1C,
Notes

  • Weak expression in lymphoblastoids
  • Strongest IR in cells expressing the 45 kDa isoform (kidney, gut, brain, testis)
  • In developing eye at 10.5 w expression in the developing outer neuroblastic layer of the retina giving rise to rod and cones
  • In developing ear at 10.5 w expression at lower levels in the apical and basal surfaces of cells destined to form sensory areas of the labyrinth
  • Weak expression of 45 kDa isoform in the eye and ear
  • 73 kDa is confirmed in eye and ear
Species: Homo sapiens
See also:
Chromosomal localisation in man: 11q14.3

in mouse:
Gene Data

:
Exons:
Primers:
Protein Data
Amino acids:
Molecular weight on SDS-PAGE:

calculated: 45 kDa, 73 kDa
Reference: (1)
USH1C,
Notes

  • Contains PDZ-domain
  • Transcripts have been identified by Nothern-Blot in small intestine, colon, kidney and pancreas
Species: Homo sapiens
See also:
Chromosomal localisation in man: 11q14.3

in mouse:
Gene Data
mRNA: 2.3-2.4 kb
Exons: 28
Primers:
Protein Data
Amino acids:
Molecular weight on SDS-PAGE:

calculated:
Reference: (2)
USH1C,
Notes

  • Contains PDZ-domain
  • Major transcript contains 1644 bp ORF, 26 bp 5'UTR, 393 bp 3'UTR
  • 95.6% identical with human protein
  • 8 different transcripts in the inner ear
  • Splice variants containing exons D and 21 have not been found in eye and liver
  • Exons D and G/G' have only been found in vestibule and cochlea
Species: Mus musculus (domesticus)
See also:
Chromosomal localisation in man:

in mouse:
Gene Data
mRNA: 2063 bp
Exons: 28
Primers:
Protein Data
Amino acids:
Molecular weight on SDS-PAGE:

calculated:
Reference: (2)
References:
  1. Bitner-Glindzicz,M., Lindley,K.J., Rutland,P., Blaydon,D., Smith,V.V., Milla,P.J., Hussain,K., Furth-Lavi,J., Cosgrove,K.E., Shepherd,R.M., Barnes,P.D., O'Brien,R.E., Farndon,P.A., Sowden,J., Liu,X.Z., Scanlan,M.J., Malcolm,S., Dunne,M.J., Aynsley-Green,A., and Glaser,B. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. 2000; Nat.Genet. 26: 56-60.
    Link to PubMed
    Goto Top

  2. Verpy,E., Leibovici,M., Zwaenepoel,I., Liu,X.Z., Gal,A., Salem,N., Mansour,A., Blanchard,S., Kobayashi,I., Keats,B.J., Slim,R., and Petit,C. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. 2000; Nat.Genet. 26: 51-55.
    Link to PubMed
    Goto Top
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Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz