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

被引：12

作者：

Hollmann, Anne K. ^{[1
]}

Dammann, Insa ^{[2
]}

Wemheuer, Wiebke M. ^{[3
]}

Wemheuer, Wilhelm E. ^{[1
]}

Chilla, Almuth ^{[1
]}

Tipold, Andrea ^{[4
]}

Schulz-Schaeffer, Walter J. ^{[3
]}

Beck, Julia ^{[5
]}

Schuetz, Ekkehard ^{[1
]}

Brenig, Bertram ^{[1
]}

机构：

[1] Univ Goettingen, Inst Vet Med, Gottingen, Germany

[2] Univ Med Ctr Goettingen, Dept Neuropathol, Prion & Dementia Res Unit, Gottingen, Germany

[3] Univ Saarland, Inst Neuropathol, Homburg, Germany

[4] Univ Vet Med Hannover, Dept Small Anim Med & Surg, Hannover, Germany

[5] Chronix Biomed, Gottingen, Germany

来源：

PLOS ONE | 2017年 / 12卷 / 07期

关键词：

GROWTH-FACTOR-BETA; PROTEOMIC ANALYSIS; AQUEOUS-HUMOR; CONGENITAL CATARACTS; HUMAN IRIS; GENOME; ASSOCIATION; EXPRESSION; HYBRIDIZATION; PREDICTION;

D O I：

10.1371/journal.pone.0180665

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.5995966C>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.

引用

页数：18

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