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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)

Submitter: 安居院 高志

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