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Functional differences between TSHR alleles associate with variation in spawning season in Atlantic herring
Junfeng Chen1,2, Huijuan Bi3, Mats E Pettersson3
1Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden. junfeng.chen@itbm.nagoya-u.ac.jp.
Communications Biology
|June 26, 2021
Summary
Atlantic herring seasonal reproduction is linked to thyroid-stimulating hormone receptor (TSHR) gene variants. A specific mutation enhances signaling, while a retrotransposon insertion may alter gene expression, explaining different spawning times.
Area of Science:
- * Reproductive biology
- * Molecular genetics
- * Fisheries science
Background:
- * The molecular basis for seasonal reproduction, specifically long-day versus short-day breeding, is largely unknown across species.
- * Atlantic herring exhibit distinct spring and autumn spawning seasons within the same species, offering a unique model for studying reproductive timing.
- * Previous research identified a strong association between thyroid-stimulating hormone receptor (TSHR) gene alleles and herring spawning seasons, but functional validation was lacking.
Purpose of the Study:
- * To investigate the functional significance of six candidate TSHR mutations linked to Atlantic herring reproductive seasonality.
- * To determine how specific genetic variants within the TSHR gene influence the timing of reproduction in herring.
Main Methods:
- * Functional analysis of candidate TSHR mutations.
- * Assessment of cAMP signaling pathways in response to identified mutations.
- * Investigation of non-coding variants, including retrotransposon insertions, near the TSHR gene locus.
- * Comparative genomics to trace the evolutionary history of variants.
Main Results:
- * A missense mutation (L471M) in the spring-spawning allele of TSHR was found to enhance cAMP signaling.
- * A 5.2 kb retrotransposon insertion upstream of the TSHR transcription start site, near an open chromatin region, was identified as a likely non-coding driver of altered TSHR expression.
- * This retrotransposon insertion predates the divergence of Pacific and Atlantic herring and is absent in the autumn-spawning allele.
Conclusions:
- * Both coding (missense mutation) and non-coding (retrotransposon insertion) variants at the TSHR locus likely play a role in regulating seasonal reproduction in Atlantic herring.
- * These findings provide molecular insights into the mechanisms underlying seasonal breeding patterns in a commercially important fish species.
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