De Novo Mutation Rates in Sticklebacks

被引:4
|
作者
Zhang, Chaowei [1 ]
Reid, Kerry [1 ]
Sands, Arthur F. [1 ]
Fraimout, Antoine [1 ,2 ]
Schierup, Mikkel Heide [3 ]
Merila, Juha [1 ,2 ]
机构
[1] Univ Hong Kong, Sch Biol Sci, Area Ecol & Biodivers, Hong Kong, Peoples R China
[2] Univ Helsinki, Fac Biol & Environm Sci, Res Program Organismal & Evolutionary Biol, Helsinki, Finland
[3] Aarhus Univ, Bioinformat Res Ctr, Aarhus, Denmark
基金
芬兰科学院; 中国国家自然科学基金;
关键词
mutation rate; divergence time; genetic diversity; germline mutation rate; ninespine stickleback; GERMLINE MUTATION; DROSOPHILA-MELANOGASTER; POPULATION-STRUCTURE; EVOLUTION; PUNGITIUS; GENOME; METHYLATION; SEQUENCES; PATTERNS; FORMAT;
D O I
10.1093/molbev/msad192
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Mutation rate is a fundamental parameter in population genetics. Apart from being an important scaling parameter for demographic and phylogenetic inference, it allows one to understand at what rate new genetic diversity is generated and what the expected level of genetic diversity is in a population at equilibrium. However, except for well-established model organisms, accurate estimates of de novo mutation rates are available for a very limited number of organisms from the wild. We estimated mutation rates (mu) in two marine populations of the nine-spined stickleback (Pungitius pungitius) with the aid of several 2- and 3-generational family pedigrees, deep (>50x) whole-genome resequences and a high-quality reference genome. After stringent filtering, we discovered 308 germline mutations in 106 offspring translating to mu = 4.83 x 10(-9) and mu = 4.29 x 10(-9) per base per generation in the two populations, respectively. Up to 20% of the mutations were shared by full-sibs showing that the level of parental mosaicism was relatively high. Since the estimated mu was 3.1 times smaller than the commonly used substitution rate, recalibration with mu led to substantial increase in estimated divergence times between different stickleback species. Our estimates of the de novo mutation rate should provide a useful resource for research focused on fish population genetics and that of sticklebacks in particular.
引用
收藏
页数:13
相关论文
共 50 条
  • [21] Biocides used as material preservatives modify rates of de novo mutation and horizontal gene transfer in bacteria
    Schmidt, Selina B.I.
    Rodríguez-Rojas, Alexandro
    Rolff, Jens
    Schreiber, Frank
    Journal of Hazardous Materials, 2022, 437
  • [22] Mutation spectrum and incidence of de novo mutation of Japanese Fabry patients
    Kobayashi, M.
    Ohashi, T.
    Kaneshiro, E.
    Ida, H.
    Eto, Y.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 : 105 - 105
  • [23] De novo mutation in severe haemophilia B family with double mutation
    Vinciguerra, C.
    Fretigny, M.
    Borg, J.
    Chamouni, P.
    Testard, L.
    Negrier, C.
    HAEMOPHILIA, 2008, 14 : 69 - 69
  • [24] Three de novo chromosome abnormalities and a de novo NF1 mutation in a single patient
    Smith, Kath
    Clouston, H.
    Upadhyaya, M.
    Sobey, G.
    Quarrell, O.
    Maltby, E.
    JOURNAL OF MEDICAL GENETICS, 2008, 45 : S96 - S96
  • [25] Frequency and Complexity of De Novo Structural Mutation in Autism
    Brandler, William M.
    Antaki, Danny
    Gujral, Madhusudan
    Noor, Amina
    Rosanio, Gabriel
    Chapman, Timothy R.
    Barrera, Daniel J.
    Lin, Guan Ning
    Malhotra, Dheeraj
    Watts, Amanda C.
    Wong, Lawrence C.
    Estabillo, Jasper A.
    Gadomski, Therese E.
    Hong, Oanh
    Fajardo, Karin V. Fuentes
    Bhandari, Abhishek
    Owen, Renius
    Baughn, Michael
    Yuan, Jeffrey
    Solomon, Terry
    Moyzis, Alexandra G.
    Maile, Michelle S.
    Sanders, Stephan J.
    Reiner, Gail E.
    Vaux, Keith K.
    Strom, Charles M.
    Zhang, Kang
    Muotri, Alysson R.
    Akshoomoff, Natacha
    Leal, Suzanne M.
    Pierce, Karen
    Courchesne, Eric
    Iakoucheva, Lilia M.
    Corse, Christina
    Sebat, Jonathan
    AMERICAN JOURNAL OF HUMAN GENETICS, 2016, 98 (04) : 667 - 679
  • [26] An evaluation of de novo mutation content in the Lithuanian exome
    Pranckeniene, L.
    Jakaitiene, A.
    Kucinskas, V.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 1011 - 1012
  • [27] De Novo CHRNE Mutation: Congenital Myasthenic Syndrome
    Tekin, Hande Gazeteci
    Yilmaz, Sanem
    Aktan, Gul
    Gokben, Sarenur
    JOURNAL OF PEDIATRIC RESEARCH, 2019, 6 (04) : 356 - 358
  • [28] Identification of a De Novo Mutation in SPG11
    Denora, Paola S.
    Brockmann, Knut
    Ciccolella, Marianna
    Truchetto, Jeremy
    Stevanin, Giovanni
    Santorelli, Filippo M.
    MOVEMENT DISORDERS, 2010, 25 (04) : 501 - 503
  • [29] Negotiating blame and responsibility in the context of a "de novo" mutation
    Dimond, Rebecca
    NEW GENETICS AND SOCIETY, 2014, 33 (02) : 149 - 166
  • [30] A framework for the interpretation of de novo mutation in human disease
    Kaitlin E Samocha
    Elise B Robinson
    Stephan J Sanders
    Christine Stevens
    Aniko Sabo
    Lauren M McGrath
    Jack A Kosmicki
    Karola Rehnström
    Swapan Mallick
    Andrew Kirby
    Dennis P Wall
    Daniel G MacArthur
    Stacey B Gabriel
    Mark DePristo
    Shaun M Purcell
    Aarno Palotie
    Eric Boerwinkle
    Joseph D Buxbaum
    Edwin H Cook
    Richard A Gibbs
    Gerard D Schellenberg
    James S Sutcliffe
    Bernie Devlin
    Kathryn Roeder
    Benjamin M Neale
    Mark J Daly
    Nature Genetics, 2014, 46 : 944 - 950