| Help | About | Contact Us

Publication : Searching for New Genes That Cause Usher Syndrome.

First Author	Moshiri A	Year	2026
Journal	Am J Ophthalmol	Volume	290
Pages	258-276	PubMed ID	42309414
Mgi Jnum	J:393128	Mgi Id	MGI:8435109
Doi	10.1016/j.ajo.2026.06.016	Citation	Moshiri A, et al. (2026) Searching for New Genes That Cause Usher Syndrome. Am J Ophthalmol 290:258-276

abstractText

PURPOSE: The purpose of this project was to identify novel Usher syndrome (USH) candidate genes from phenotyping data of 9139 knockout (KO) mouse lines. METHODS: We evaluated phenotype data for concurrent retinopathy and hearing abnormalities in single-gene KO mice generated by the International Mouse Phenotyping Consortium (IMPC). A search was performed to determine whether each gene had been previously associated with retinopathy and/or deafness in humans. Bioinformatic tools were used to predict protein interactions, molecular functions, signaling pathways, and the expression of human orthologues of candidate genes in the retina and inner ear. RESULTS: We identified 18 single-gene KO lines exhibiting hearing abnormality and retinopathy after ear and eye examinations, respectively, and/or by histopathology. The molecular functions and signaling pathways of the human orthologues of the 18 candidate genes partially overlapped with those of USH genes. Particularly, FER and DYRK1B proteins were predicted to interact with proteins encoded by known ciliopathy genes. ADIPOR1, ATP8B1, and MPDZ were associated with retinal degeneration in humans. CHSY1 and IDUA may be pathogenic causes of hearing impairment in people. Furthermore, CHSY1, CSTB, and SPRED1 were located adjacent to unsolved genetic loci related to USH. CONCLUSIONS: A screen of 9139 KO mouse lines revealed 18 candidate genes exhibiting both retinal and inner ear abnormalities consistent with the principal clinical features associated with USH. As the observed phenotypes are attributed to gene deletion in mice, these genes warrant further study to determine the causation of retinal degeneration and hearing loss in patients.

Expression

Publication --> Expression annotations

Other

42 Authors

Huckfeldt RM,
D'Souza A,
Bujakowska KM,
Moshiri A,
McKerlie C,
Sangermano R,
Flenniken AM,
Angelis MH,
Palkova M,
Roux MJ,
Nutter LMJ,
Guimond A,
Eskandarian M,
INTERNATIONAL MOUSE PHENOTYPING CONSORTIUM,
Clary D,
Place EM,
Becker L,
Ali L,
Brown SD,
Gailus-Durner V,
Prochazka J,
Lloyd KCK,
Sedlacek R,
Shea M,
Raishbrook MJ,
Yang B,
Kasiri N,
Lanoue L,
Petit-Demouliere B,
Shao A,
Bour R,
Amarie OV,
Lux A,
Fuchs H,
Mittelhaeuser C,
Berberovic Z,
Riet F,
H??rault Y,
Kelsey L,
Lindovsky J,
Bermingham-McDonogh O,
Bradaschia V

65 Bio Entities

0 Expression

Questions? Comments? Click here!

MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

Your name:
Your email address:
Subject:
Message:	---- Current page: ---- /mousemine/report.do?id=91748712

MouseMine