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  • 1. Hillbertz, Nicolette H. C. Salmon
    et al.
    Isaksson, Magnus
    Karlsson, Elinor K.
    Hellmen, Eva
    Pielberg, Gerli Rosengren
    Savolainen, Peter
    KTH, School of Biotechnology (BIO), Gene Technology.
    Wade, Claire M.
    Von Euler, Henrik
    Gustafson, Ulla
    Hedhammar, Ake
    Nilsson, Mats
    Lindblad-Toh, Kerstin
    Andersson, Leif
    Andersson, Goran
    Duplication of FGF3, FGF4, FGF19 and ORAOV1 causes hair ridge and predisposition to dermoid sinus in Ridgeback dogs2007In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 39, no 11, p. 1318-1320Article in journal (Refereed)
    Abstract [en]

    The dorsal hair ridge in Rhodesian and Thai Ridgeback dogs is caused by a dominant mutation that also predisposes to the congenital developmental disorder dermoid sinus. Here we show that the causative mutation is a 133-kb duplication involving three fibroblast growth factor (FGF) genes. FGFs play a crucial role in development, suggesting that the ridge and dermoid sinus are caused by dysregulation of one or more of the three FGF genes during development.

  • 2.
    Seplyarskiy, Vladimir B.
    et al.
    Harvard Med Sch, Brigham & Womens Hosp, Div Genet, Boston, MA USA.;Harvard Med Sch, Dept Biomed Informat, Boston, MA USA.;Russian Acad Sci, Inst Informat Transmiss Problems, Kharkevich Inst, Moscow, Russia..
    Akkuratov, Evgeny E.
    KTH, School of Engineering Sciences (SCI), Applied Physics, Biophysics. KTH, Centres, Science for Life Laboratory, SciLifeLab. St Petersburg State Univ, Inst Translat Biomed, St Petersburg, Russia.;Royal Inst Technol, Dept Appl Phys, Sci Life Lab, Stockholm, Sweden..
    Akkuratova, Natalia
    St Petersburg State Univ, Inst Translat Biomed, St Petersburg, Russia..
    Andrianova, Maria A.
    Skolkovo Inst Sci & Technol, Skolkovo, Russia..
    Nikolaev, Sergey I.
    Univ Paris Saclay, INSERM, U981, Gustave Roussy Canc Campus, Villejuif, France.;Univ Paris 07, St Louis Hosp, Dept Dermatol & Venereol, Paris, France..
    Bazykin, Georgii A.
    Russian Acad Sci, Inst Informat Transmiss Problems, Kharkevich Inst, Moscow, Russia.;Skolkovo Inst Sci & Technol, Skolkovo, Russia..
    Adameyko, Igor
    Karolinska Inst, Dept Physiol & Pharmacol, Stockholm, Sweden.;Med Univ Vienna, Ctr Brain Res, Vienna, Austria..
    Sunyaev, Shamil R.
    Harvard Med Sch, Brigham & Womens Hosp, Div Genet, Boston, MA USA.;Harvard Med Sch, Dept Biomed Informat, Boston, MA USA..
    Error-prone bypass of DNA lesions during lagging-strand replication is a common source of germline and cancer mutations2019In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 51, no 1, p. 36-+Article in journal (Refereed)
    Abstract [en]

    Studies in experimental systems have identified a multitude of mutational mechanisms including DNA replication infidelity and DNA damage followed by inefficient repair or replicative bypass. However, the relative contributions of these mechanisms to human germline mutation remain unknown. Here, we show that error-prone damage bypass on the lagging strand plays a major role in human mutagenesis. Transcription-coupled DNA repair removes lesions on the transcribed strand; lesions on the non-transcribed strand are preferentially converted into mutations. In human polymorphism we detect a striking similarity between mutation types predominant on the non-transcribed strand and on the strand lagging during replication. Moreover, damage-induced mutations in cancers accumulate asymmetrically with respect to the direction of replication, suggesting that DNA lesions are resolved asymmetrically. We experimentally demonstrate that replication delay greatly attenuates the mutagenic effect of ultraviolet irradiation, confirming that replication converts DNA damage into mutations. We estimate that at least 10% of human mutations arise due to DNA damage.

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