Evidence map›Paper›PMID 40999484›Full record

ArticleGenome biology2025

Determinants of de novo mutations in extended pedigrees of 43 dog breeds.

Shao-Jie Zhang, Jilong Ma, Meritxell Riera, Søren Besenbacher, Julia E Niskanen, Noora Salokorpi, Sruthi Hundi, Marjo K Hytönen, Tong Zhou, Gui-Mei Li and 4 more

Abstract read
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 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing 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

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

14 citing papers in PubMed.

  1. Review
  2. Integrative MRI and Genomics Analyses PrioritizeAnimals : an open access journal from MDPI · 2026
    Article
  3. Article
  4. Dislodging the drift barrier: Why do mutation rates vary?Proceedings of the National Academy of Sciences of the United States of America · 2026
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  11. Population size interacts with reproductive longevity to shape the germline mutation rate.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  12. Article
  13. Article
  14. Article
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

14 authors.

Shao-Jie Zhang *State Key Laboratory of Genetic Evolution & Animal Models, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China.
Jilong Ma *Bioinformatics Research Centre, Aarhus University, Aarhus C, 8000, Denmark.
Meritxell Riera *Bioinformatics Research Centre, Aarhus University, Aarhus C, 8000, Denmark.
Søren BesenbacherBioinformatics Research Centre, Aarhus University, Aarhus C, 8000, Denmark.
Julia E NiskanenDepartment of Medical and Clinical Genetics, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Noora SalokorpiDepartment of Medical and Clinical Genetics, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Sruthi HundiDepartment of Medical and Clinical Genetics, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Marjo K HytönenDepartment of Medical and Clinical Genetics, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Tong ZhouState Key Laboratory of Genetic Evolution & Animal Models, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China.
Gui-Mei LiState Key Laboratory of Genetic Evolution & Animal Models, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China.
Elaine A OstranderNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Mikkel Heide SchierupBioinformatics Research Centre, Aarhus University, Aarhus C, 8000, Denmark. mheide@birc.au.dk.
Hannes LohiDepartment of Medical and Clinical Genetics, Faculty of Medicine, University of Helsinki, Helsinki, Finland. hannes.lohi@helsinki.fi.
Guo-Dong WangState Key Laboratory of Genetic Evolution & Animal Models, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China. wanggd@mail.kiz.ac.cn.

Funding

Academy of Finland 361596National Natural Science Foundation of China 32170436Novo Nordisk Foundation NNF18OC0031004Spring City Plan 2022SCP001STI2030-Major Projects 2021ZD0203900Yunnan Fundamental Research Projects 202201AV070011
6 · The paper itself

Abstract

backgroundUnderstanding the determinants of de novo mutation is critical for elucidating evolutionary processes and genetic disease susceptibility. But the interplay between life history, genomic architecture, and recombination remains poorly understood in non-model species. Domestic dogs, lacking the recombination regulator PRDM9 and subject to intense artificial selection, offer a unique system for dissecting factors that jointly influence mutation accumulation. Here, we leverage large-scale trio sequencing to unravel the determinants of de novo mutations across diverse dog breeds.

resultsBy analyzing 390 trios from 43 breeds, we estimate a germline mutation rate of 4.89 × 10

conclusionsThe unique mutational landscape in canids is determined by paternal age, body size, and CpG Islands recombination. Despite extensive breeding, germline mutation rates in dogs remain stable across breeds. The elevated mutation rate in CpG Islands due to recombination in the absence of PRDM9 underscores a distinct evolutionary mechanism in canids. These findings enhance our understanding of mutation dynamics, with implications for canine genetic diversity, disease susceptibility, and broader genomic studies in species lacking PRDM9.

Indexed as

Germ-Line MutationMutationPedigreeAnimalsBreedingCpG IslandsDogsFemaleMaleMutation RateCpG IslandsDe novo mutationDog breedsMLH1Mutation ratePRDM9

Identifiers

PMID40999484
PMCPMC12465969

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.