Journal Article
Pseudogenization of Mc1r gene associated with transcriptional changes related to melanogenesis explains leucistic phenotypes in Oreonectes cavefish (Cypriniformes, Nemacheilidae)
Liu, Z., Wen, H., Hailer, F., Dong, F., Yang, Z., Liu, T., Han, L., Shi, F., Hu, Y. and Zhou, J.
Record Number:
4493
Year:
2019
Journal:
Journal of Zoological Systematics and Evolutionary Research
Pages:
900-909
Volume:
57
Abstract:
Organisms that have colonized underground caves encounter vastly different selective
pressures than their relatives in above-ground
habitats. While disruption of certain
pigmentation genes has been documented in various cave-dwelling
taxa, little is
known about wider impacts across pigmentation and other gene pathways. We here
study the timeframe and transcriptional landscape of a leucistic and blind cypriniform
fish (Oreonectes daqikongensis, Nemacheilidae) that inhabits karst caves in Guizhou,
China. Based on data from the mitochondrial ND4, ND5, and Cytb genes, we show
that the divergence between O. daqikongensis and its most closely related pigmented
species occurred ca. 6.82 million years ago (95% HPD, 5.12–9.01), providing ample
time for widespread phenotypic change. Indeed, we found that the DNA sequence of
Mc1r (melanocortin-1
receptor), a key gene regulating the biosynthesis of melanin in
most vertebrates, is pseudogenized in O. daqikongensis, caused by a 29 bp deletion in
the protein-coding
region. Furthermore, 99,305 unigenes were annotated based on
the transcriptome of skin tissue of Oreonectes f ish. A mong t he d ifferentially e xpressed
unigenes, 7,326 (7.4% of the total unigenes) had decreased expression and
2,530 (2.5% of the total unigenes) had increased expression in O. daqikongensis skin.
As predicted, the expression of Mc1r and 18 additional genes associated with melanin
biosynthesis was significantly downregulated in the skin tissue of O. daqikongensis,
but not in its congener. Our results, integrating with other studies on cavefishes, suggest
that loss of pigmentation was caused by coding region loss-of-
function
mutations
along with widespread transcriptional changes, resulting from extended
evolutionary time as a cave-dwelling
form.
KEY WORDS
cavefish, frameshift mutation, leucism, Mc1r, Oreonectes daqikongensis, transcriptome
Times Cited:
4
Relevent Species:
Related Records:
Zheng, J.Z. (1981)
Oreonectes anophthalmus
Zhao, Z. (1983)New discovery of cave blind fish in Wuming, Guangxi
Zhou, J. (1985)Fishes in karst caves of Guangxi
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Yang, J., Wu, T.J., Wei, R.F. and Yang, J. (2011)A new loach, Oreonectes luochengensis sp. nov. (Cypriniformes: Balitoridae) from Guangxi, China.
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Lan, J.H., Gan, X., Wu, T.J. and Yang, J. (2013)Cave fishes of Guangxi, China
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Liu, Z., Wen, H., Hailer, F., Dong, F., Yang, Z., Liu, T., Han, L., Shi, F., Hu, Y. and Zhou, J. (2019)Pseudogenization of Mc1r gene associated with transcriptional changes related to melanogenesis explains leucistic phenotypes in Oreonectes cavefish (Cypriniformes, Nemacheilidae)
Liu, Z., Wen, H., Hailer, F., Dong, F., Yang, Z., Liu, T., Han, L., Shi, F., Hu, Y. and Zhou, J. (2019)Pseudogenization of Mc1r gene associated with transcriptional changes related to melanogenesis explains leucistic phenotypes in Oreonectes cavefish (Cypriniformes, Nemacheilidae)
Liu, Z., Wen, H., Hailer, F., Dong, F., Yang, Z., Liu, T., Han, L., Shi, F., Hu, Y. and Zhou, J. (2019)Pseudogenization of Mc1r gene associated with transcriptional changes related to melanogenesis explains leucistic phenotypes in Oreonectes cavefish (Cypriniformes, Nemacheilidae)
Liu, Z., Wen, H., Hailer, F., Dong, F., Yang, Z., Liu, T., Han, L., Shi, F., Hu, Y. and Zhou, J. (2019)Pseudogenization of Mc1r gene associated with transcriptional changes related to melanogenesis explains leucistic phenotypes in Oreonectes cavefish (Cypriniformes, Nemacheilidae)
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