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Genetic Background Strongly Modifies the Severity of Symptoms of Hirschsprung Disease, but not Hearing Loss in Rats Carrying Ednrb^[sl] Mutations
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| Title: | Genetic Background Strongly Modifies the Severity of Symptoms of Hirschsprung Disease, but not Hearing Loss in Rats Carrying Ednrb^[sl] Mutations |
| Authors: | Dang, Ruihua Browse this author | | Torigoe, Daisuke Browse this author | | Suzuki, Sari Browse this author | | Kikkawa, Yoshiaki Browse this author | | Moritoh, Kanako Browse this author | | Sasaki, Nobuya Browse this author →KAKEN DB | | Agui, Takashi Browse this author →KAKEN DB |
| Issue Date: | 7-Sep-2011 |
| Publisher: | Public Library of Science |
| Journal Title: | PLoS One |
| Volume: | 6 |
| Issue: | 9 |
| Start Page: | e24086 |
| Publisher DOI: | 10.1371/journal.pone.0024086 |
| Abstract: | Hirschsprung disease (HSCR) is thought to result as a consequence of multiple gene interactions that modulate the ability of enteric neural crest cells to populate the developing gut. However, it remains unknown whether the single complete deletion of important HSCR-associated genes is sufficient to result in HSCR disease. In this study, we found that the null mutation of the Ednrb gene, thought indispensable for enteric neuron development, is insufficient to result in HSCR disease when bred onto a different genetic background in rats carrying Ednrb^[sl] mutations. Moreover, we found that this mutation results in serious congenital sensorineural deafness, and these strains may be used as ideal models of Waardenburg Syndrome Type 4 (WS4). Furthermore, we evaluated how the same changed genetic background modifies three features of WS4 syndrome, aganglionosis, hearing loss, and pigment disorder in these congenic strains. We found that the same genetic background markedly changed the aganglionosis, but resulted in only slight changes to hearing loss and pigment disorder. This provided the important evidence, in support of previous studies, that different lineages of neural crest-derived cells migrating along with various pathways are regulated by different signal molecules. This study will help us to better understand complicated diseases such as HSCR and WS4 syndrome. |
| Rights: | http://creativecommons.org/licenses/by/3.0/ |
| Type: | article |
| URI: | http://hdl.handle.net/2115/47211 |
| Appears in Collections: | 獣医学院・獣医学研究院 (Graduate School of Veterinary Medicine / Faculty of Veterinary Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)
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Submitter: 安居院 高志
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