Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis (original) (raw)

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NOTE: The affiliation of the 24th author, Alessandro Terrinoni, was listed incorrectly. It should read IDI-IRCCS Biochemistry Laboratory c/o Univ. Tor Vergata, 00133 Rome, Italy. The error has been corrected in the HTML and PDF versions of this article.

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Acknowledgements

We thank the family members for their participation in the study, and J. Zeller, S. Burge and M. Young for referring patients. This work was supported mainly by the National Natural Science Foundation of China (funds 30730097 and 30721063 to X.Z.). X.Z. is a Chang Jiang Scholar of Genetic Medicine supported by the Ministry of Education, China. C.-D.H. was supported by the National Natural Science Foundation of China (30771948). The McLean laboratory is supported by grants from the Dystrophic Epidermolysis Bullosa Research Association, the Pachyonychia Congenita Project, the British Skin Foundation, the National Eczema Society and the Medical Research Council (G0700314). S.Y. is supported by the Ministry of Education, China (SRFDP 20050366004). The German group is supported by grants from the Deutsche Forschungsgemeinschaft (Research Unit FOR 423 to M.M.N. and R.K. and Emmy Noether Programme to R.C.B.). M.M.N. holds an Alfried Krupp von Bohlen and Halbach-Chair in Genetic Medicine. R.S. and J.G. are supported by Epiderm, the Scientific Research Fund of the Australasian College of Dermatologists and the Scientific Research Fund of the Skin and Cancer Foundation of Victoria.

Author information

Author notes

  1. Yaran Wen, Yang Liu, Yiming Xu and Yiwei Zhao: These authors contributed equally to this work.

Authors and Affiliations

  1. McKusick-Zhang Center for Genetic Medicine and National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100005, China
    Yaran Wen, Yiming Xu, Rui Hua, Miao Sun, Dandan Shang, Qing Liu, Wilson H-Y Lo & Xue Zhang
  2. The Research Center for Medical Genomics, China Medical University, Shenyang, 110001, China
    Yang Liu, Yang Luo, Li Jiang & Xue Zhang
  3. Division of Molecular Medicine, Epithelial Genetics Group, Colleges of Life Sciences and Medicine, Dentistry & Nursing, University of Dundee, Dundee, DD1 5EH, Scotland, UK
    Yiwei Zhao & W H Irwin McLean
  4. Department of Dermatology, No. 1 Hospital of China Medical University, Shenyang, 110001, China
    Kaibo Wang, Yuanhong Li, Hong-Duo Chen & Chun-Di He
  5. Institute of Dermatology, Anhui Medical University, Hefei, 230032, China
    Sen Yang & Xue-Jun Zhang
  6. Department of Dermatology, University of Düsseldorf, Düsseldorf, D-40225, Germany
    Roland Kruse
  7. Institute of Human Genetics, University of Bonn, Bonn, D-53111, Germany
    Sven Cichon, Regina C Betz & Markus M Nöthen
  8. Department of Genomics, Life & Brain Center, University of Bonn, Bonn, D-53127, Germany
    Sven Cichon & Markus M Nöthen
  9. Maastricht University Center for Molecular Dermatology, University Hospital Maastricht, Maastricht, 6202AZ, The Netherlands
    Maurice A M van Steensel, Michel van Geel & Peter M Steijlen
  10. CHUV, Hôpital de Beaumont, Lausanne, CH-1011, Switzerland
    Daniel Hohl & Marcel Huber
  11. Department of Dermatology, Bristol Royal Infirmary, Bristol, BS2 8HW, UK
    Giles S Dunnill & Cameron Kennedy
  12. Department of Dermatology, Royal Hallamshire Hospital, Sheffield, S10 2JF, UK
    Andrew Messenger
  13. Department of Dermatology, Southern General Hospital, Glasgow, G51 4TF, UK
    Colin S Munro
  14. IDI-IRCCS Biochemistry Laboratory, c/o Univ. of Tor Vergata, Rome, 00133, Italy
    Alessandro Terrinoni
  15. INSERM U563, Centre de Physiopathologie de Toulouse Purpan, Toulouse, F-313000, France
    Alain Hovnanian
  16. Department of Dermatology, Necker Hospital, Paris, 75105, France
    Christine Bodemer & Yves de Prost
  17. Departments of Dermatology and Pediatrics, Northwestern University, Chicago, 60611, Illinois, USA
    Amy S Paller
  18. Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin 12, Ireland
    Alan D Irvine
  19. Department of Clinical Medicine, Trinity College Dublin, Dublin 2, Ireland
    Alan D Irvine
  20. Department of Dermatology, St. Vincent's Hospital, Melbourne, 3065, Victoria, Australia
    Rod Sinclair & Jack Green

Authors

  1. Yaran Wen
  2. Yang Liu
  3. Yiming Xu
  4. Yiwei Zhao
  5. Rui Hua
  6. Kaibo Wang
  7. Miao Sun
  8. Yuanhong Li
  9. Sen Yang
  10. Xue-Jun Zhang
  11. Roland Kruse
  12. Sven Cichon
  13. Regina C Betz
  14. Markus M Nöthen
  15. Maurice A M van Steensel
  16. Michel van Geel
  17. Peter M Steijlen
  18. Daniel Hohl
  19. Marcel Huber
  20. Giles S Dunnill
  21. Cameron Kennedy
  22. Andrew Messenger
  23. Colin S Munro
  24. Alessandro Terrinoni
  25. Alain Hovnanian
  26. Christine Bodemer
  27. Yves de Prost
  28. Amy S Paller
  29. Alan D Irvine
  30. Rod Sinclair
  31. Jack Green
  32. Dandan Shang
  33. Qing Liu
  34. Yang Luo
  35. Li Jiang
  36. Hong-Duo Chen
  37. Wilson H-Y Lo
  38. W H Irwin McLean
  39. Chun-Di He
  40. Xue Zhang

Contributions

X.Z. designed and oversaw the entire project. X.Z. and C.-D.H. initiated the study. X.Z. and W.H.I.M. coordinated the mutation screening work and prepared the manuscript. Y.W., Y. Liu, Y.Z. and M.v.G. carried out the linkage analysis and mutation screening. Y.X., R.H., K.W. and Y.W. conducted the mRNA and protein expression experiments. X.Z. and Y.W. conducted the bioinformatics analysis. M.S., D.S., Q.L., Y. Luo and L.J. supported the genetic analyses. H.-D.C. and W.H.-Y.L. supported the study design. Y. Liu, S.Y., X.-J.Z., R.K., S.C., R.C.B., M.M.N., M.A.M.v.S., P.M.S., D.H., M.H., G.S.D., C.K., A.M., C.S.M., A.T., A.H., C.B., Y.d.P., A.S.P., A.D.I., R.S. and J.G. were responsible for clinical evaluation and sample collection, including earlier published linkage studies.

Corresponding authors

Correspondence toW H Irwin McLean, Chun-Di He or Xue Zhang.

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Competing interests

X.Z., C.-D.H., Y.W., Y. Liu, Y.X., R.H., K.W. and M.S. have applied for a patent relating to the U2HR sequence.

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Wen, Y., Liu, Y., Xu, Y. et al. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.Nat Genet 41, 228–233 (2009). https://doi.org/10.1038/ng.276

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