Morgagnian cataract resulting from a naturally occurring nonsense mutation elucidates a role of CPAMD8 in mammalian lens development | Zendy

Anne K. Hollmann | Zendy; Insa Dammann | Zendy; Wiebke M. Wemheuer | Zendy; Wilhelm Wemheuer | Zendy; Almuth Chilla | Zendy; Andrea Tipold | Zendy; Walter SchulzSchaeffer | Zendy; Julia Beck | Zendy; Ekkehard Schütz | Zendy; Bertram Brenig | Zendy

Open Access

Morgagnian cataract resulting from a naturally occurring nonsense mutation elucidates a role of CPAMD8 in mammalian lens development

Author(s) -

Anne K. Hollmann,

Insa Dammann,

Wiebke M. Wemheuer,

Wilhelm Wemheuer,

Almuth Chilla,

Andrea Tipold,

Walter SchulzSchaeffer,

Julia Beck,

Ekkehard Schütz,

Bertram Brenig

Publication year - 2017

Publication title -

plos one

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.99

H-Index - 332

ISSN - 1932-6203

DOI - 10.1371/journal.pone.0180665

Subject(s) - biology , nonsense mutation , ciliary body , cataracts , genetics , mutation , lens (geology) , gene , microbiology and biotechnology , missense mutation , paleontology , neuroscience

To investigate the genetic basis of hereditary lens opacities we analyzed 31 cases of bilateral congenital cataract in Red Holstein Friesian cattle. A genome-wide association study revealed a significant association on bovine chromosome 7 at positions 6,166,179 and 12,429,691. Whole genome re-sequencing of one case and four relatives showed a nonsense mutation (g.5995966 C>T ) in the PZP-like, alpha-2-macroglobulin domain containing 8 ( CPAMD8 ) gene leading to a premature stop codon (CPAMD8 p.Gln74*) associated with cataract development in cattle. With immunohistochemistry we confirmed a physiological expression of CPAMD8 in the ciliary body epithelium of the eye in unaffected cattle, while the protein was not detectable in the ciliary body of cattle with cataracts. RNA expression of CPAMD8 was detected in healthy adult, fetal and cataractous lenses.

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