Remember Me
Or use your Academic/Social account:


Or use your Academic/Social account:


You have just completed your registration at OpenAire.

Before you can login to the site, you will need to activate your account. An e-mail will be sent to you with the proper instructions.


Please note that this site is currently undergoing Beta testing.
Any new content you create is not guaranteed to be present to the final version of the site upon release.

Thank you for your patience,
OpenAire Dev Team.

Close This Message


Verify Password:
Verify E-mail:
*All Fields Are Required.
Please Verify You Are Human:
fbtwitterlinkedinvimeoflicker grey 14rssslideshare1
Bedoni, N.; Haer-Wigman, L.; Vaclavik, V.; Tran, V.H.; Farinelli, P.; Balzano, S.; Royer-Bertrand, B.; El-Asrag, M.E.; Bonny, O.; Ikonomidis, C.; Litzistorf, Y.; Nikopoulos, K.; Yioti, G.G.; Stefaniotou, M.I.; McKibbin, M.; Booth, A.P.; Ellingford, J.M.; Black, G.C.; Toomes, C.; Inglehearn, C.F.; Hoyng, C.B.; Bax, N.; Klaver, C.C.; Thiadens, A.A.; Murisier, F.; Schorderet, D.F.; Ali, M.; Cremers, F.P.; Andréasson, S.; Munier, F.L. ... view all 31 authors View less authors (2016)
Publisher: Oxford University Press
Languages: English
Types: Article
Hereditary retinal degenerations encompass a group of genetic diseases characterized by extreme clinical variability. Following next-generation sequencing and autozygome-based screening of patients presenting with a peculiar, recessive form of cone-dominated retinopathy, we identified five homozygous variants [p.(Asp594fs), p.(Gln117*), p.(Met712fs), p.(Ile756Phe), and p.(Glu543Lys)] in the polyglutamylase-encoding gene TTLL5, in eight patients from six families. The two male patients carrying truncating TTLL5 variants also suffered from a substantial reduction in sperm motility and infertility, whereas those carrying missense changes were fertile. Defects in this polyglutamylase in humans have recently been associated with cone photoreceptor dystrophy, while mouse models carrying truncating mutations in the same gene also display reduced fertility in male animals. We examined the expression levels of TTLL5 in various human tissues and determined that this gene has multiple viable isoforms, being highly expressed in testis and retina. In addition, antibodies against TTLL5 stained the basal body of photoreceptor cells in rat and the centrosome of the spermatozoon flagellum in humans, suggesting a common mechanism of action in these two cell types. Taken together, our data indicate that mutations in TTLL5 delineate a novel, allele-specific syndrome causing defects in two as yet pathogenically unrelated functions, reproduction and vision.

Share - Bookmark

Cite this article