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Atp6v1b2 Plays Important Roles in the Early Development of Hearing, the Pectoral Fin, the Cardiovascular System, and the Swim Bladder of the Zebrafish, Supporting a Role for the Gene in Syndromic Hearing Loss

Yongyi Yuan, Xue Gao, Feng Xin, Pu Dai
doi: https://doi.org/10.1101/024240
Yongyi Yuan
1Department of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, People’s Republic of China
2Department of Otolaryngology, Hainan Branch of PLA General Hospital, Sanya, 572000, People’s Republic of China
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Xue Gao
1Department of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, People’s Republic of China
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Feng Xin
1Department of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, People’s Republic of China
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Pu Dai
1Department of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, People’s Republic of China
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  • For correspondence: daipu301@vip.sina.com
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Abstract

Background The ATP6V1B2 gene plays a critical role in the auditory system, and a mutation in this gene is one genetic cause of DDOD syndrome (Dominant deafness-onychodystrophy syndrome, MIM 124480) and ZLS (Zimmermann-Laband syndrome, MIM 135500). However, whether and how ATP6V1B2 is involved in the development of other organs remains unknown. In the present study, we explored the effect of atp6v1b2 knockdown on early zebrafish development and verified that this gene plays a role in syndromic hearing loss.

Methods Three morpholinos (two splice-blocking, one translation-blocking) and the atp6v1b2 c.1516 C>T plasmid were used to knockdown or overexpress atp6v1b2 in zebrafish after microinjection of fertilised embryos. Control and atp6v1b2 embryo morphants were evaluated 6 days post-fertilisation in terms of motility, apoptosis, pectoral fin development, and hair cell number.

Results Atp6v1b2-knockdown zebrafish exhibited decreased body length, pericardial oedema, hair cell loss, a non-inflated swim bladder, and shorter pectoral fins; the first three phenotypes were also evident in fish overexpressing the gene.

Conclusions Atp6v1b2 plays important roles in the development of hearing, the pectoral fin, the cardiovascular system, and the swim bladder, thereby supporting a role for this gene in syndromic hearing loss.

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. All rights reserved. No reuse allowed without permission.
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Posted August 10, 2015.
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Atp6v1b2 Plays Important Roles in the Early Development of Hearing, the Pectoral Fin, the Cardiovascular System, and the Swim Bladder of the Zebrafish, Supporting a Role for the Gene in Syndromic Hearing Loss
Yongyi Yuan, Xue Gao, Feng Xin, Pu Dai
bioRxiv 024240; doi: https://doi.org/10.1101/024240
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Atp6v1b2 Plays Important Roles in the Early Development of Hearing, the Pectoral Fin, the Cardiovascular System, and the Swim Bladder of the Zebrafish, Supporting a Role for the Gene in Syndromic Hearing Loss
Yongyi Yuan, Xue Gao, Feng Xin, Pu Dai
bioRxiv 024240; doi: https://doi.org/10.1101/024240

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