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Conserved missense variant in ALDH1A3 ortholog impairs fecundity in C. elegans

Wong, Wan-Rong and Maher, Shayda and Oh, Jun Young and Brugman, Katherine I. and Gharib, Shahla and Sternberg, Paul W. (2021) Conserved missense variant in ALDH1A3 ortholog impairs fecundity in C. elegans. microPublication Biology . Art. No. 000357. ISSN 2578-9430. doi:10.17912/micropub.biology.000357.

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Accumulating evidence demonstrates that mutations in ALDH1A3 (the aldehyde dehydrogenase 1 family, member A3) are associated with developmental defects. The ALDH1A3 enzyme catalyzes retinoic acid biosynthesis and is essential to patterning and neuronal differentiation in the development of embryonic nervous system. Several missense mutations in ALDH1A3 have been identified in family studies of autosomal recessive microphthalmia, autism spectrum disorder, and other neurological disorders. However, there has been no evidence from animal models that verify the functional consequence of missense mutations in ALDH1A3. Here, we introduced the equivalent of the ALDH1A3 C174Y variant into the Caenorhabditis elegans ortholog, alh-1, at the corresponding locus. Mutant animals with this missense mutation exhibited decreased fecundity by 50% compared to wild-type animals, indicating disrupted protein function. To our knowledge, this is the first ALDH1A3 C174Y missense model, which might be used to elucidate the effects of ALDH1A3 C174Y missense mutation in the retinoic acid signaling pathway during development.

Item Type:Article
Related URLs:
URLURL TypeDescription
Wong, Wan-Rong0000-0002-9757-8145
Maher, Shayda0000-0002-1987-6104
Oh, Jun Young0000-0002-5158-9017
Brugman, Katherine I.0000-0003-2625-2903
Sternberg, Paul W.0000-0002-7699-0173
Additional Information:© 2021 by the authors. This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 International (CC BY 4.0) License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Received: December 29, 2020; Revision received: January 8, 2021; Accepted: January 11, 2021; Published: January 14, 2021. This work was supported by Simons Foundation (SFARI award # 367560 to PWS). PWS was an investigator with the Howard Hughes Medical Institute during the initial part of this study. Author Contributions: Wan-Rong Wong: Investigation, Formal analysis, Writing - original draft. Shayda Maher: Methodology, Writing - review and editing Jun Young Oh: Investigation, Writing - review and editing. Katherine I Brugman: Methodology. Shahla Gharib: Methodology. Paul W Sternberg: Conceptualization, Funding acquisition, Writing - review and editing.
Funding AgencyGrant Number
Simons Foundation367560
Howard Hughes Medical Institute (HHMI)UNSPECIFIED
Record Number:CaltechAUTHORS:20210125-135501460
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Official Citation:Wong, W-R; Maher, S; Oh, JY; Brugman, KI; Gharib, S; Sternberg, PW (2021). Conserved missense variant in ALDH1A3 ortholog impairs fecundity in C. elegans. microPublication Biology. 10.17912/micropub.biology.000357
Usage Policy:No commercial reproduction, distribution, display or performance rights in this work are provided.
ID Code:107714
Deposited By: Tony Diaz
Deposited On:26 Jan 2021 19:28
Last Modified:16 Nov 2021 19:05

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