Search: onr:"swepub:oai:lup.lub.lu.se:3905c59d-05f9-4354-8996-01f6e5eaecac" >
Mutations in the po...
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility
-
- Bedoni, Nicola (author)
- University of Lausanne
-
- Haer-Wigman, Lonneke (author)
- Radboud University Nijmegen
-
- Vaclavik, Veronika (author)
- Jules Gonin Ophthalmic Hospital
-
show more...
-
- Tran, Viet H. (author)
- Jules Gonin Ophthalmic Hospital
-
- Farinelli, Pietro (author)
- University of Lausanne
-
- Balzano, Sara (author)
- University of Lausanne
-
- Royer-Bertrand, Beryl (author)
- University of Lausanne
-
- El-Asrag, Mohammed E. (author)
- University of Leeds
-
- Bonny, Olivier (author)
- Lausanne University Hospital
-
- Ikonomidis, Christos (author)
- Lausanne University Hospital
-
Litzistorf, Yan (author)
-
Nikopoulos, Konstantinos (author)
-
Yioti, Georgia G. (author)
-
Stefaniotou, Maria I. (author)
-
McKibbin, Martin (author)
-
Booth, Adam P. (author)
-
Ellingford, Jamie M. (author)
-
Black, Graeme C. M. (author)
-
Toomes, Carmel (author)
-
Inglehearn, Chris F. (author)
-
Hoyng, Carel B. (author)
-
Bax, Nathalie (author)
-
Klaver, Caroline C. W. (author)
-
Thiadens, Alberta A. (author)
-
Murisier, Fabien (author)
-
Schorderet, Daniel F. (author)
-
Ali, Manir (author)
-
Cremers, Frans P M (author)
-
- Andréasson, Sten (author)
- Lund University,Lunds universitet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine
-
Munier, Francis L. (author)
-
Rivolta, Carlo (author)
-
show less...
-
(creator_code:org_t)
- 2016
- 2016
- English 10 s.
-
In: Human Molecular Genetics. - 0964-6906. ; 25:20, s. 4546-4555
- Related links:
-
https://lup.lub.lu.s...
Abstract
Subject headings
Close
- 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 displayed 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
Find in a library
To the university's database
- By the author/editor
-
Bedoni, Nicola
-
Haer-Wigman, Lon ...
-
Vaclavik, Veroni ...
-
Tran, Viet H.
-
Farinelli, Pietr ...
-
Balzano, Sara
-
show more...
-
Royer-Bertrand, ...
-
El-Asrag, Mohamm ...
-
Bonny, Olivier
-
Ikonomidis, Chri ...
-
Litzistorf, Yan
-
Nikopoulos, Kons ...
-
Yioti, Georgia G ...
-
Stefaniotou, Mar ...
-
McKibbin, Martin
-
Booth, Adam P.
-
Ellingford, Jami ...
-
Black, Graeme C. ...
-
Toomes, Carmel
-
Inglehearn, Chri ...
-
Hoyng, Carel B.
-
Bax, Nathalie
-
Klaver, Caroline ...
-
Thiadens, Albert ...
-
Murisier, Fabien
-
Schorderet, Dani ...
-
Ali, Manir
-
Cremers, Frans P ...
-
Andréasson, Sten
-
Munier, Francis ...
-
Rivolta, Carlo
-
show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Basic Medicine
-
and Medical Genetics
- Articles in the publication
-
Human Molecular ...
- By the university
-
Lund University