Retina International's Scientific Newsletter

	Retina International's Scientific Newsletter
Editor's Notes from literature on Otocadherin (CDH23)

Recent update from: 20.08.2002

CDH23

Notes

Transmembrane domain AA 3067-3086

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 10q2
	in mouse:

Gene Data

Exons: 69

Primers:

Protein Data

Amino acids: 3354 AA

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (1)

CDH23,

Notes

27% identity, 41% similarity to human FAT gene
Large extracellular with several cadherin repeats, transmembrane, and cytoplasmic domain (258 AA)
Involved in cellular interaction
7.5 kb cDNA
Retina and cochlear specific expression
Incomplete cDNA
Polyadenylation signal 651bp downstream of stop codon
1.6 kb from 3'UTR of prosaposin gene
Northern blot suggests alternative splice forms
Homology to FAT only in EC domains

Species: Homo sapiens

See also:

Chromosomal localisation	in man: 10q21-22
	in mouse:

Gene Data

mRNA: 9.5 kb

Exons: 47 +

Primers:

Protein Data

Amino acids: 2552 AA

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (2)

Cdh23, otocadherin

Notes

Extracellular domain containing 27 cadherin repeats
Critical component of hair cell formation
Signal sequence (23 AA)
Extracellualr domain (3043 AA)
Helical TMD (21 AA)
C-terminal cytosolic region (268 AA)
Tyr-kinase phosphorylation site near C-terminus

Species: Mus musculus (domesticus)

See also:

Chromosomal localisation	in man:
	in mouse: 10

Gene Data

genomic: 10.5 kb

Exons:

Primers:

Protein Data

Amino acids: 3354 AA

Molecular weight	on SDS-PAGE:
	calculated: 365 kDa

Reference: (3)

CDH23, otocadherin

Notes

Component of adherens junctions
Plays critical role during embryogenesis and organogenesis
Formation of anti-parallel dimers to mediate cell adhesion, migration, and compaction
Mutations disrupt stereocilia organization on hair cells
Genomic 3590 kb
Ectodomains adopt a conformation similar to cadherins
In the organ of Corti the predominant splice form includes exon 68
1 TMD
Cell cell adhesion through Ca²⁺ dependent formation of dimers
27 ectodomains
Exon-intron boundaries
NEP region predicted to be adjacent to the Ca²⁺ binding pocket and to form part of the linker region conencting EC25 and EC26

Species: Mus musculus (domesticus)

See also:

Chromosomal localisation	in man:
	in mouse: D10Mit60-D10Mit130

Gene Data

Exons: 2+69

Primers:

Protein Data

Amino acids: 3354 AA

Molecular weight	on SDS-PAGE:
	calculated:

Reference: (4)

References:

Bolz,H., von Brederlow,B., Ramirez,A., Bryda,E.C., Kutsche,K., Nothwang,H.G., Seeliger,M., del,C.-S., Vila,M.C., Molina,O.P., Gal,A., and Kubisch,C. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. 2001; Nat.Genet. 27: 108-112.
Link to PubMed
Goto Top
Bork,J.M., Peters,L.M., Riazuddin,S., Bernstein,S.L., Ahmed,Z.M., Ness,S.L., Polomeno,R., Ramesh,A., Schloss,M., Srisailpathy,C.R., Wayne,S., Bellman,S., Desmukh,D., Ahmed,Z., Khan,S.N., Kaloustian,V.M., Li,X.C., Lalwani,A., Riazuddin,S., Bitner-Glindzicz,M., Nance,W.E., Liu,X.Z., Wistow,G., Smith,R.J., Griffith,A.J., Wilcox,E.R., Friedman,T.B., and Morell,R.J. Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23. 2001; Am.J.Hum.Genet. 68: 26-37.
Link to PubMed
Goto Top
Di Palma,F., Holme,R.H., Bryda,E.C., Belyantseva,I.A., Pellegrino,R., Kachar,B., Steel,K.P., and Noben-Trauth,K. Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. 2001; Nat.Genet. 27: 103-107.
Link to PubMed
Goto Top
Di Palma,F., Pellegrino,R., and Noben-Trauth,K. Genomic structure, alternative splice forms and normal and mutant alleles of cadherin 23 (Cdh23). 2001; Gene. 281: 31-41.
Link to PubMed
Goto Top

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Contact the editor	This site is maintained and edited by 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