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Scientific Newsletter
Editor's Notes

from literature on

Protocadherin (PCDH15)

 Editor's Notes

Recent update from: 20.08.2002

PCDH15,
Notes

  • Signal peptide
  • Startcodon in exon 2
  • 11 extracellular calcium-binding domains
  • 1 transmembrane domain
  • 1 cytoplasmic domain
Species: Homo sapiens
See also:
Chromosomal localisation in man: 10q11.2-21

in mouse:
Gene Data
mRNA: ~3.3 kb major transcript in retina
low abundance ~6 and ~8.6 kb
Exons: 33
Primers:
Protein Data
Amino acids: 1955 AA
Molecular weight on SDS-PAGE: ~216 kDa

calculated:
Reference: (1)
PCDH15,
Notes

  • Expression by
    • Northern blot in
      • adult
        • brain
        • lung
        • kidney
      • fetal
        • brain
      • RT-PCR
        • fetal
          • cochlea
      • Westernblot confirmed Northern Blot
      • Alternative spliced forms in Northern blots
      • IR in human fetal cochlea in
        • supporting cells
        • outer sulcus cells
        • spiral ganglion
      • 11 cadherin repeats
      • 1 TM domain
      • Cytoplasmic domain with 2 Pro-rich regions to bind to profilin or SH3 or WW domain containing proteins Role in processes to regulate planar polarity of sensory-neuroepithelium
      • 94% (extracellular) and 53% (intracellular) AA identity to mouse
Species: Homo sapiens
See also:
Chromosomal localisation in man: 10q11.2-21

in mouse:
Gene Data
mRNA: 6.75 and 9.75 kb
Exons:
Primers:
Protein Data
Amino acids: 1955 AA
Molecular weight on SDS-PAGE: ~175 kDa (+180, 160, 130 kDa)

calculated:
Reference: (2)
References:
  1. Ahmed,Z.M., Riazuddin,S., Bernstein,S.L., Ahmed,Z., Khan,S., Griffith,A.J., Morell,R.J., Friedman,T.B., Riazuddin,S., and Wilcox,E.R. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. 2001; Am.J.Hum Genet. 69: 25-34.
    Link to PubMed
    Goto Top

  2. Alagramam,K.N., Yuan,H., Kuehn,M.H., Murcia,C.L., Wayne,S., Srisailpathy,C.R., Lowry,R.B., Knaus,R., Van Laer,L., Bernier,F.P., Schwartz,S., Lee,C., Morton,C.C., Mullins,R.F., Ramesh,A., Van Camp,G., Hagemen,G.S., Woychik,R.P., and Smith,R.J. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. 2001; Hum.Mol.Genet. 10: 1709-1718.
    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