Evidence map›Paper›PMID 40426235›Full record

ArticleGenome biology2025

AMHY and sex determination in egg-laying mammals.

Linda Shearwin-Whyatt, Jane Fenelon, Hongshi Yu, Andrew Major, Zhipeng Qu, Yang Zhou, Keith Shearwin, James Galbraith, Alexander Stuart, David Adelson and 6 more

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In one paragraph

Article in Genome biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors.

Linda Shearwin-Whyatt *School of Biological Sciences, The University of Adelaide, Adelaide, SA, 5005, Australia.
Jane Fenelon *School of Biosciences, The University of Melbourne, Melbourne, VIC, 3010, Australia.
Hongshi YuSchool of Biosciences, The University of Melbourne, Melbourne, VIC, 3010, Australia.
Andrew MajorMonash Biomedicine Discovery Institute, Department of Anatomy and Developmental Biology, Monash University, Clayton, VIC, 3068, Australia.
Zhipeng QuSchool of Biological Sciences, The University of Adelaide, Adelaide, SA, 5005, Australia.
Yang ZhouState Key Laboratory of Genome and Multi-Omics Technologies, BGI Research, Shenzhen, 518083, China.
Keith ShearwinSchool of Biological Sciences, The University of Adelaide, Adelaide, SA, 5005, Australia.
James GalbraithSchool of Biological Sciences, The University of Adelaide, Adelaide, SA, 5005, Australia.
Alexander StuartSchool of Biological Sciences, The University of Adelaide, Adelaide, SA, 5005, Australia.
David AdelsonSchool of Biological Sciences, The University of Adelaide, Adelaide, SA, 5005, Australia.
Guojie ZhangSchool of Medicine, Zhejiang University, Hangzhou, China.
Michael PyneCurrumbin Wildlife Sanctuary, Currumbin, QLD, 4223, Australia.
Stephen JohnstonSchool of Environment, The University of Queensland, Gatton, QLD, 4343, Australia.
Craig SmithMonash Biomedicine Discovery Institute, Department of Anatomy and Developmental Biology, Monash University, Clayton, VIC, 3068, Australia.
Marilyn Renfree *School of Biosciences, The University of Melbourne, Melbourne, VIC, 3010, Australia.
Frank Grützner *School of Biological Sciences, The University of Adelaide, Adelaide, SA, 5005, Australia. frank.grutzner@adelaide.edu.au.

Funding

Australian Research Council DP210103512
6 · The paper itself

Abstract

backgroundEgg-laying mammals (monotremes) evolved multiple sex chromosomes independently of therian mammals and lack the sex-determining gene SRY. The Y-localized anti-Müllerian hormone gene (AMHY) is the candidate sex-determination gene in monotremes. Here, we describe the evolution of monotreme AMHX and AMHY gametologues and for the first time, investigate their expression during gonad sexual differentiation in a monotreme.

resultsMonotreme AMHX and AMHY have significant sequence divergence at the promoter, gene, and protein level, likely following an original allele inversion in the early stages of monotreme sex chromosome differentiation but retaining the conserved features of TGF-β molecules. We show that the expression of sexual differentiation genes in the echidna fetal gonad, including DMRT1 and SOX9, is significantly different from that of therian mammals. Importantly, AMHY is expressed exclusively in the male gonad during sexual differentiation consistent with a role as the primary sex-determination gene whereas AMHX is expressed in both sexes. Experimental ectopic expression of platypus AMHX or AMHY in the chicken embryo did not masculinize the female urogenital system, as does chicken AMH, a possible result of mammalian-specific changes to AMH proteins preventing function in the chicken.

conclusionsOur results provide insight into the early steps of monotreme sex chromosome evolution and sex determination with developmental expression data strongly supporting AMHY as the primary male sex-determination gene of platypus and echidna.

Indexed as

Anti-Mullerian HormoneSex Determination ProcessesAnimalsEvolution, MolecularFemaleGene Expression Regulation, DevelopmentalGonadsMaleMammalsPlatypusSex DifferentiationSOX9 Transcription FactorTachyglossidaeTranscription FactorsAnti-Mullerian HormoneDMRT1 proteinSOX9 Transcription FactorTranscription FactorsAnti-Müllerian hormone (AMH)EchidnaMonotremePlatypusSex determination

Identifiers

PMID40426235
PMCPMC12117775

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