Abstract
The X–linked Kallmann syndrome gene was recently cloned and homologous sequences of unknown functional significance identified on the Y chromosome. We now describe a patient with Kallmann syndrome carrying an X;Y translocation resulting from abnormal pairing and precise recombination between the X–linked Kallmann syndrome gene and its homologue on the Y. The translocation created a recombinant, non–functional Kallmann syndrome gene identical to the normal X–linked gene with the exception of the 3′ end which is derived from the Y. Our findings indicate that the 3′ portion of the Kallmann syndrome gene is essential for its function and cannot be substituted by the Y–derived homologous region, although a ‘position’ effect remains a formal possibility.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Kallmann, F., Schoenfeld, W.A. & Barrera, S.E. Am. J. ment. Defic. 48, 203–236 (1944).
De Morsier, G. Arch. neurol. Psychiatr. 74, 309–361 (1954).
Ballabio, A. et al. Hum. Genet. 72, 237–240 (1986).
Ballabio, A. et al. Proc. natn. Acad. Sci. U.S.A. 86, 10001–10005 (1989).
Ballabio, A., Bardoni, B., Guioli, S., Basler, E. & Camerino, G. Genomics 8, 263–270 (1990).
Petit, C., Levilliers, J. & Weissenbach J. Proc. natn. Acad. Sci. U.S.A. 87, 3680–3684 (1990).
Meitinger, T. et al. Am. J. hum. Genet. 47, 664–669 (1990).
Franco, B. et al. Nature 353, 529–536 (1991).
Legouis, R. et al. Cell 67, 423–435 (1991).
Bick, D. et al. New Engl. J. Med. 326, 1752–1755 (1992).
Ballabio, A. & Andria, G. Hum. molec. Genet. (in the press).
Taylor, K., Ulinowski, Z. & Wolfe, J. Cytogenet. Cell Genet. 58, 2096–2097 (1991).
Marcus, M., Tantravahi, R., Dev, V.G., Miller, D.A. & Miller, O.J. Nature 262, 63–65 (1976).
Fraser, N., Ballabio, A., Zollo, M., Persico, M.G. & Craig, I.W. Development 101, 127–132 (1987).
Yen, P.H. et al. Cell 55, 1123–1135 (1988).
Bardoni, B. et al. Genomics 11, 443–451 (1991).
Ross, M.T., Ballabio, A., Craig, I.W. Genomics 6, 528–539 (1990).
Ballabio, A. et al. Ann. hum. Genet. 53, 9–14 (1989).
Bodrug, S.E. et al. Science 237, 1620–1624 (1987).
Bodrug, S.E., Holden, J.J.A., Ray, P.N. & Worton, R.G. EMBO J. 10, 3931–3939 (1991).
Rouyer, F., Simmler, M.C., Page, D.C. & Weissehbach, J. Cell 51, 417–425 (1987).
Yen, P.H. et al. Proc. natn. Acad. Sci. U.S.A. 88, 8944–8948 (1991).
Tiepolo, L. et al. Hum. Genet. 54, 205–206 (1980).
Mondello, G., Ropers, H.H., Craig, I.W., Tolley, E. & Goodfellow, P.N. Ann. hum. Genet. 51, 137–143 (1987).
Hohjoh, H., Minakami, R. & Sakaki, Y. Nucl. Acids Res. 18, 4099–4104 (1990).
Ledbetter, S.A., Nelson, D., Warren, S.T. & Ledbetter, D.H. Genomics 6, 475–481 (1990).
Brown, C.J. et al. Nature 349, 82–84 (1991).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Guioli, S., Incerti, B., Zanaria, E. et al. Kallmann syndrome due to a translocation resulting in an X/Y fusion gene. Nat Genet 1, 337–340 (1992). https://doi.org/10.1038/ng0892-337
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/ng0892-337
This article is cited by
-
Highly homologous loci on the X and Y chromosomes are hot–spots for ectopic recombinations leading to XX maleness
Nature Genetics (1994)
-
A high resolution deletion map of human chromosome Xp22
Nature Genetics (1993)
-
Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes
Nature Genetics (1992)
