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Biallelic Deletion of Pxdn in Mice Leads to Anophthalmia and Severe Eye Malformation

Authors
 Hyun-Kyung Kim  ;  Kyung A Ham  ;  Seung-Woo Lee  ;  Hong Seok Choi  ;  Hong-Sug Kim  ;  Hong Kyung Kim  ;  Hae-Sol Shin  ;  Kyoung Yul Seo  ;  Yejin Cho  ;  Ki Taek Nam  ;  In-Beom Kim  ;  Young Ae Joe 
Citation
 INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, Vol.20(24) : E6144, 2019 
Journal Title
 INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 
Issue Date
2019
Keywords
CRISPR/Cas9 ; anophthalmia ; eye development ; knockout mice ; microphthalmia ; peroxidasin
Abstract
Peroxidasin (PXDN) is a unique peroxidase containing extracellular matrix motifs and stabilizes collagen IV networks by forming sulfilimine crosslinks. PXDN gene knockout in Caenorhabditis elegans (C. elegans) and Drosophila results in the demise at the embryonic and larval stages. PXDN mutations lead to severe eye disorders, including microphthalmia, cataract, glaucoma, and anterior segment dysgenesis in humans and mice. To investigate how PXDN loss of function affects organ development, we generated Pxdn knockout mice by deletion of exon 1 and its 5' upstream sequences of the Pxdn gene using the CRISPR/Cas9 system. Loss of both PXDN expression and collagen IV sulfilimine cross-links was detected only in the homozygous mice, which showed completely or almost closed eyelids with small eyes, having no apparent external morphological defects in other organs. In histological analysis of eye tissues, the homozygous mice had extreme defects in eye development, including no eyeballs or drastically disorganized eye structures, whereas the heterozygous mice showed normal eye structure. Visual function tests also revealed no obvious functional abnormalities in the eyes between heterozygous mice and wild-type mice. Thus, these results suggest that PXDN activity is essential in eye development, and also indicate that a single allele of Pxdn gene is sufficient for eye-structure formation and normal visual function.
Files in This Item:
T201905177.pdf Download
DOI
10.3390/ijms20246144
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Anatomy (해부학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > BioMedical Science Institute (의생명과학부) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Hong Kyung(김홍경)
Nam, Ki Taek(남기택)
Seo, Kyoung Yul(서경률) ORCID logo https://orcid.org/0000-0002-9855-1980
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/174659
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