Primary defects in the lens underlie complex anterior segment abnormalities of the Pax6 heterozygous eye

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Abstract

We describe lens defects in heterozygous small eye mice, and autonomous deficiencies of Pax6+/− cells in the developing lens of Pax6+/+ ↔ Pax6+/− chimeras. Two separate defects of the lens were identified by analyzing the distribution of heterozygous cells in chimeras: Pax6+/− cells are less readily incorporated into the lens placode than wild type, and those that are incorporated into the lens are not maintained efficiently in the proliferating lens epithelium. The lens of chimeric eyes is, therefore, predominantly wild type from embryonic day 16.5 onwards, whereas heterozygous cells contribute normally to all other eye tissues. Eye size and defects of the iris and cornea are corrected in fetal and adult chimeras with up to 80% mutant cells. Therefore, these aspects of the phenotype may be secondary consequences of primary defects in the lens, which has clinical relevance for the human aniridia (PAX6+/−) phenotype.
Original languageEnglish
Pages (from-to)9688-9693
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Volume98
Issue number17
DOIs
Publication statusPublished - 2001

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Lenses
Aniridia
Phenotype
Crystalline Lens
Iris
Cornea
Epithelium

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title = "Primary defects in the lens underlie complex anterior segment abnormalities of the Pax6 heterozygous eye",
abstract = "We describe lens defects in heterozygous small eye mice, and autonomous deficiencies of Pax6+/− cells in the developing lens of Pax6+/+ ↔ Pax6+/− chimeras. Two separate defects of the lens were identified by analyzing the distribution of heterozygous cells in chimeras: Pax6+/− cells are less readily incorporated into the lens placode than wild type, and those that are incorporated into the lens are not maintained efficiently in the proliferating lens epithelium. The lens of chimeric eyes is, therefore, predominantly wild type from embryonic day 16.5 onwards, whereas heterozygous cells contribute normally to all other eye tissues. Eye size and defects of the iris and cornea are corrected in fetal and adult chimeras with up to 80{\%} mutant cells. Therefore, these aspects of the phenotype may be secondary consequences of primary defects in the lens, which has clinical relevance for the human aniridia (PAX6+/−) phenotype.",
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journal = "Proceedings of the National Academy of Sciences of the United States of America",
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TY - JOUR

T1 - Primary defects in the lens underlie complex anterior segment abnormalities of the Pax6 heterozygous eye

AU - Quinn, Jane

PY - 2001

Y1 - 2001

N2 - We describe lens defects in heterozygous small eye mice, and autonomous deficiencies of Pax6+/− cells in the developing lens of Pax6+/+ ↔ Pax6+/− chimeras. Two separate defects of the lens were identified by analyzing the distribution of heterozygous cells in chimeras: Pax6+/− cells are less readily incorporated into the lens placode than wild type, and those that are incorporated into the lens are not maintained efficiently in the proliferating lens epithelium. The lens of chimeric eyes is, therefore, predominantly wild type from embryonic day 16.5 onwards, whereas heterozygous cells contribute normally to all other eye tissues. Eye size and defects of the iris and cornea are corrected in fetal and adult chimeras with up to 80% mutant cells. Therefore, these aspects of the phenotype may be secondary consequences of primary defects in the lens, which has clinical relevance for the human aniridia (PAX6+/−) phenotype.

AB - We describe lens defects in heterozygous small eye mice, and autonomous deficiencies of Pax6+/− cells in the developing lens of Pax6+/+ ↔ Pax6+/− chimeras. Two separate defects of the lens were identified by analyzing the distribution of heterozygous cells in chimeras: Pax6+/− cells are less readily incorporated into the lens placode than wild type, and those that are incorporated into the lens are not maintained efficiently in the proliferating lens epithelium. The lens of chimeric eyes is, therefore, predominantly wild type from embryonic day 16.5 onwards, whereas heterozygous cells contribute normally to all other eye tissues. Eye size and defects of the iris and cornea are corrected in fetal and adult chimeras with up to 80% mutant cells. Therefore, these aspects of the phenotype may be secondary consequences of primary defects in the lens, which has clinical relevance for the human aniridia (PAX6+/−) phenotype.

U2 - 10.1073/pnas.161144098

DO - 10.1073/pnas.161144098

M3 - Article

VL - 98

SP - 9688

EP - 9693

JO - Proceedings of the National Academy of Sciences of the United States of America

JF - Proceedings of the National Academy of Sciences of the United States of America

SN - 0027-8424

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ER -