IDEAS home Printed from https://ideas.repec.org/a/nat/nature/v391y1998i6663d10.1038_34432.html
   My bibliography  Save this article

A serine/threonine kinase gene defective in Peutz–Jeghers syndrome

Author

Listed:
  • Akseli Hemminki

    (Departments of Medical Genetics)

  • David Markie

    (Dunedin School of Medicine)

  • Ian Tomlinson

    (Section of Cancer Genetics, Haddow Laboratories, Institute of Cancer Research
    John Radcliffe Hospital)

  • Egle Avizienyte

    (Departments of Medical Genetics)

  • Stina Roth

    (Departments of Medical Genetics)

  • Anu Loukola

    (Departments of Medical Genetics)

  • Graham Bignell

    (Section of Cancer Genetics, Haddow Laboratories, Institute of Cancer Research)

  • William Warren

    (Section of Cancer Genetics, Haddow Laboratories, Institute of Cancer Research)

  • Maria Aminoff

    (Departments of Medical Genetics
    Folkhlsan Institute of Genetics)

  • Pia Höglund

    (Departments of Medical Genetics)

  • Heikki Järvinen

    (Helskinki University Central Hospital)

  • Paula Kristo

    (Departments of Medical Genetics)

  • Katarina Pelin

    (Departments of Medical Genetics
    Folkhlsan Institute of Genetics)

  • Maaret Ridanpää

    (Departments of Medical Genetics
    Folkhlsan Institute of Genetics)

  • Reijo Salovaara

    (Departments of Medical Genetics
    University of Helsinki)

  • Tumi Toro

    (Dunedin School of Medicine)

  • Walter Bodmer

    (ICRF Cancer and Immunogenetics Laboratory, Institute of Molecular Medicine, John Radcliffe Hospital)

  • Sylviane Olschwang

    (Inserm U434, Fondation Jean Dausset-CEPH F75010 Paris)

  • Anne S. Olsen

    (Human Genome Center, L-452, Lawrence Livermore National Laboratory)

  • Michael R. Stratton

    (Section of Cancer Genetics, Haddow Laboratories, Institute of Cancer Research)

  • Albert de la Chapelle

    (Departments of Medical Genetics
    Comprehensive Cancer Center, Ohio State University)

  • Lauri A. Aaltonen

    (Departments of Medical Genetics)

Abstract

Studies of hereditary cancer syndromes have contributed greatly to our understanding of molecular events involved in tumorigenesis. Here we investigate the molecular background of the Peutz–Jeghers syndrome1,2 (PJS), a rare hereditary disease in which there is predisposition to benign and malignant tumours of many organ systems. A locus for this condition was recently assigned to chromosome 19p (ref. 3). We have identified truncating germline mutations in a gene residing on chromosome 19p in multiple individuals affected by PJS. This previously identified but unmapped gene, LKB1 (ref. 4), has strong homology to a cytoplasmic Xenopus serine/threonine protein kinase XEEK1 (ref. 5), and weaker similarity to many other protein kinases. Peutz–Jeghers syndrome is therefore the first cancer-susceptibility syndrome to be identified that is due to inactivating mutations in a protein kinase.

Suggested Citation

  • Akseli Hemminki & David Markie & Ian Tomlinson & Egle Avizienyte & Stina Roth & Anu Loukola & Graham Bignell & William Warren & Maria Aminoff & Pia Höglund & Heikki Järvinen & Paula Kristo & Katarina , 1998. "A serine/threonine kinase gene defective in Peutz–Jeghers syndrome," Nature, Nature, vol. 391(6663), pages 184-187, January.
    • Handle: RePEc:nat:nature:v:391:y:1998:i:6663:d:10.1038_34432
    DOI: 10.1038/34432
    as

    Download full text from publisher

    File URL: https://www.nature.com/articles/34432
    File Function: Abstract
    Download Restriction: Access to the full text of the articles in this series is restricted.
    File URL: https://libkey.io/10.1038/34432?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    As the access to this document is restricted, you may want to search for a different version of it.

    Citations

    Citations are extracted by the CitEc Project, subscribe to its RSS feed for this item.
    as


    Cited by:

    1. Yingfeng Tu & Qin Yang & Min Tang & Li Gao & Yuanhao Wang & Jiuqiang Wang & Zhe Liu & Xiaoyu Li & Lejiao Mao & Rui zhen Jia & Yuan Wang & Tie-shan Tang & Pinglong Xu & Yan Liu & Lunzhi Dai & Da Jia, 2024. "TBC1D23 mediates Golgi-specific LKB1 signaling," Nature Communications, Nature, vol. 15(1), pages 1-21, December.

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:nat:nature:v:391:y:1998:i:6663:d:10.1038_34432. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    We have no bibliographic references for this item. You can help adding them by using this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Sonal Shukla or Springer Nature Abstracting and Indexing (email available below). General contact details of provider: http://www.nature.com .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.