Heterozygous 1Neu mice transmit a single base pair insertion mutation within the paired domain (exon 2) of the PAX2 gene; this mutation is identical to that in humans with Renal-Coloboma Syndrome. In both mice and humans, PAX2 heterozygotes are born with optic colobomas and renal hypoplasia. Previously, we have shown that kidneys of fetal 1Neu mice have increased apoptosis of ureteric bud (UB) cells and reduced UB branching. However, it is unclear whether increased susceptibility to apoptosis is the critical determinant of renal hypoplasia in PAX2 haploinsufficiency. / In this study, E13.5 fetal kidney pairs were microdissected from wildtype and heterozygous PAX2 mutant embryos and cultured +/- the caspase inhibitor, Z-VAD-fmk, for 50 hours. Explants were immunostained with Dolichos biflorus lectin, visualized by fluorescent microscopy and scored for the number of terminal UB branches. Mutant kidneys had fewer UB terminal branches compared to wildtype littermates (-20%, p = 0.04). (Abstract shortened by UMI.)
| Identifer | oai:union.ndltd.org:LACETR/oai:collectionscanada.gc.ca:QMM.29423 |
| Date | January 2002 |
| Creators | Clark, Patsy C. |
| Contributors | Goodyer, Paul (advisor) |
| Publisher | McGill University |
| Source Sets | Library and Archives Canada ETDs Repository / Centre d'archives des thèses électroniques de Bibliothèque et Archives Canada |
| Language | English |
| Detected Language | English |
| Type | Electronic Thesis or Dissertation |
| Format | application/pdf |
| Coverage | Master of Science (Department of Human Genetics.) |
| Rights | All items in eScholarship@McGill are protected by copyright with all rights reserved unless otherwise indicated. |
| Relation | alephsysno: 001940991, proquestno: MQ85775, Theses scanned by UMI/ProQuest. |
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