TY - JOUR
T1 - USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses
AU - Adato, Avital
AU - Vreugde, Sarah
AU - Joensuu, Tarja
AU - Avidan, Nili
AU - Hamalainen, Riikka
AU - Belenkiy, Olga
AU - Olender, Tsviya
AU - Bonne-Tamir, Batsheva
AU - Ben-Asher, Edna
AU - Espinos, Carmen
AU - Millán, José M.
AU - Lehesjoki, Anna Elina
AU - Flannery, John G.
AU - Avraham, Karen B.
AU - Pietrokovski, Shmuel
AU - Sankila, Eeva Marja
AU - Beckmann, Jacques S.
AU - Lancet, Doron
N1 - Funding Information:
We are grateful to all patients and their family members who participated in this study. We would also like to thank Ronna Hertzano for the preparation of the mouse inner ear cDNA. This work was funded by an Infrastructure grant of the Israeli Ministry of Science Culture and Sports, the Crown Human Genome Center at The Weizmann Institute of Science, the Alfried Krupp Foundation and by the Finnish Eye and Tissue Bank Foundation, the Finnish Eye Foundation, the Maud Kuistila Memorial Foundation, the Oskar Oflund Foundation, Finnish State grant TYH9235, the European Commission (QLG2-CT-1999-00988) (KB Araham) and by the Foundation Fighting Blindness. JS Beckman holds the, Hermann Mayer professorial chair and D Lancet holds the Ralf and Lois Silver professorial chair.
PY - 2002
Y1 - 2002
N2 - Usher syndrome type 3 (USH3) is an autosomal recessive disorder characterised by the association of post-lingual progressive hearing loss, progressive visual loss due to retinitis pigmentosa and variable presence of vestibular dysfunction. Because the previously defined transcripts do not account for all USH3 cases, we performed further analysis and revealed the presence of additional exons embedded in longer human and mouse USH3A transcripts and three novel USH3A mutations. Expression of Ush3a transcripts was localised by whole mount in situ hybridisation to cochlear hair cells and spiral ganglion cells. The full length USH3A transcript encodes clarin-1, a four-transmembrane-domain protein, which defines a novel vertebrate-specific family of three paralogues. Limited sequence homology to stargazin, a cerebellar synapse four-transmembrane-domain protein, suggests a role for clarin-1 in hair cell and photoreceptor cell synapses, as well as a common pathophysiological pathway for different Usher syndromes.
AB - Usher syndrome type 3 (USH3) is an autosomal recessive disorder characterised by the association of post-lingual progressive hearing loss, progressive visual loss due to retinitis pigmentosa and variable presence of vestibular dysfunction. Because the previously defined transcripts do not account for all USH3 cases, we performed further analysis and revealed the presence of additional exons embedded in longer human and mouse USH3A transcripts and three novel USH3A mutations. Expression of Ush3a transcripts was localised by whole mount in situ hybridisation to cochlear hair cells and spiral ganglion cells. The full length USH3A transcript encodes clarin-1, a four-transmembrane-domain protein, which defines a novel vertebrate-specific family of three paralogues. Limited sequence homology to stargazin, a cerebellar synapse four-transmembrane-domain protein, suggests a role for clarin-1 in hair cell and photoreceptor cell synapses, as well as a common pathophysiological pathway for different Usher syndromes.
KW - Clarin
KW - Deafness
KW - Four-transmembrane-domain proteins
KW - Retinitis pigmentosa
KW - USH3
UR - http://www.scopus.com/inward/record.url?scp=0036021030&partnerID=8YFLogxK
U2 - 10.1038/sj.ejhg.5200831
DO - 10.1038/sj.ejhg.5200831
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AN - SCOPUS:0036021030
SN - 1018-4813
VL - 10
SP - 339
EP - 350
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 6
ER -