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Abnormal migration and distribution of neural crest cells in Pax6 heterozygous mutant eye, a model for human eye diseases
Author(s) -
Kanakubo Sachiko,
Nomura Tadashi,
Yamamura Kenichi,
Miyazaki Junichi,
Tamai Makoto,
Osumi Noriko
Publication year - 2006
Publication title -
genes to cells
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.912
H-Index - 115
eISSN - 1365-2443
pISSN - 1356-9597
DOI - 10.1111/j.1365-2443.2006.00992.x
Subject(s) - pax6 , biology , neural crest , eye development , microbiology and biotechnology , ectoderm , neural plate , haploinsufficiency , aniridia , mutant , phenotype , genetics , transcription factor , embryo , embryogenesis , gene
PAX6/Pax6 gene encodes a transcription factor that is crucially required for eye development. Pax6 heterozygous mutant mouse ( Pax6 Sey /+ ) shows various ocular defects, especially in the anterior segment. It has been well known that the induction of the lens and development of the cornea and retina are dependent on PAX6/Pax6 in a cell‐autonomous fashion, although the influence of PAX6/Pax6 on the other tissues derived from the ocular mesenchyme is largely unknown. Using transgenic mouse lines in which neural crest cells are genetically marked by LacZ or EGFP, we revealed the extensive contribution of neural crest derived cells (NCDCs) to the ocular tissues. Furthermore, various eye defects in Pax6 Sey /+ mouse were accompanied by abnormal distribution of NCDCs from early developmental stages to the adult. In Pax6 Sey /+ mouse mice, neural crest cells abnormally migrated into the developing eye in a cell nonautonomous manner at early embryonic stages. These results indicate that normal distribution and integration of NCDCs in ocular tissues depend on a proper dosage of Pax6, and that Pax6 Sey /+ eye anomalies are caused by cell autonomous and nonautonomous defects due to Pax6 haploinsufficiency.