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Assignment of an autosomal sex reversa– locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3–q25.1

Nature Genetics volume 4, pages 170174 (1993) | Download Citation

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Abstract

We have mapped the autosomal sex reversal locus, SRA1, associated with campomelic dysplasia (CMPD1) to 17q24.3–q25.1 by three independent apparently balanced de novo reciprocal translocations. Chromosome painting indicates that the translocated segment of 17q involves about 15% of chromosome 17 in all three translocations, corresponding to a breakpoint at the interphase between 17q24–q25. All three 17q breakpoints were localized distal to the growth hormone locus (GH), and proximal to thymidine kinase (TK1). Due to the distal location of the breakpoints, previously mentioned candidate genes, HOX2 and COL1A1, can be excluded as being involved in CMPD1/SRA1. The mouse mutant tail–short (Ts) which maps to the homologous syntenic region on mouse chromosome 11, displays some of the features of CMPD1.

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Author information

Affiliations

  1. The Danish Center for Human Genome Research, The John F. Kennedy Institute, Gl. Landevej 7, DK–2600 Glostrup, Denmark

    • N. Tommerup
    •  & P. Guldberg
  2. Department of Medical Genetics, Ullevaal University Hospital Oslo, Norway

    • N. Tommerup
    •  & C. Goodpasture
  3. Institute of Human Genetics, University of Freiburg, Germany

    • W. Schempp
    • , G. Scherer
    • , R. Toder
    •  & U. Wolf
  4. Division of Clinical Genetics, Altona Childrens Hospital, Hamburg, Germany

    • P. Meinecke
  5. Institute of Human Genetics, University of Aarhus, Denmark

    • S. Pedersen
    • , L. Bolund
    •  & C. Brandt
  6. Institute of Human Genetics, University of Hamburg, Germany

    • K.R. Held
  7. Horbenerstr. 10, D–7800 Freiburg, Germany

    • H. Reinwein
  8. Department of Pediatrics, The National Hospital, Oslo, Norway

    • O.D. Saugstad
    •  & O. Skjeldal
  9. Department of Pediatric Radiology, The National Hospital, Oslo, Norway

    • J. Westvik
  10. Institute of Medical Genetics, University of Oslo, Norway

    • C.B. van der Hagen

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https://doi.org/10.1038/ng0693-170

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