Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

Nature Genetics

Volumn 16, Issue 1, 1997, Pages 54-63

  Rao, Ercole ^a   Weiss, Birgit ^b   Fukami, Maki ^c   Rump, Andreas ^d   Niesler, Beate ^e   Mertz, Annelyse ^f   Muroya, Koji ^a   Binder, Gerhard ^b   Kirsch, Stefan ^c   Winkelmann, Martina ^d   Nordsiek, Gabriele ^e   Heinrich, Udo ^f   Breuning, Martijn H ^a   Ranke, Michael B ^b   Rosenthal, André ^c   Ogata, Tsutomu ^d   Rappold, Gudrun A ^a,g  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b KEIO UNIVERSITY   (Japan)

^c FRITZ LIPMANN INSTITUTE   (Germany)

^d UNIVERSITY OF TÜBINGEN   (Germany)

^e UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^f LEIDEN UNIVERSITY   (Netherlands)

^g ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; FEMALE; GENE DELETION; GENE ISOLATION; GENE LOCUS; GENETIC SCREENING; GROWTH DISORDER; HOMEOBOX; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE; TURNER SYNDROME;

EID: 0030940217     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0597-54     Document Type: Article

References (67)

1. Vogel, F. & Motulsky, M.D. Human Genetics. Problems and Approaches (SpringerVerlag, Berlin, Heidelberg, New York, 1997).
2. Martial, J.A., Hallewell, R.A., Baxter, J.D. & Goodman, H.M. Human growth hormone: complementary DNA cloning and expression in bacteria. Science 205, 602-607 (1979).
3. Phillips III, J.A., Hjelle, B.L, Seeburg, P.M. & Zachmann, M. Molecular basis for familial isolated growth hormone deficiency. Proc. WatJ. Acad. Scl. USA 78,6372-6375 (1981).
4. Leung, D.W. et al. Growth hormone receptor and serum binding protein: purification, cloning and expression. Nature 330,537-543 (1987).
5. Goddard, A.D. et al. Mutations of the growth hormone receptor in children with idiopathic short stature. W. Engl. 1. Med. 333,1093-1098 (1995).
6. Shiang, R. et al. Mutation in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondrodysplasia. Cell 78,335-342 (1994).
7. Rousseau, F. etal. Mutations in the gene encoding fibroblast growth factor receptor3 in achondroplasia. Nature 371,252-254 (1994).
8. Muenke, M. & Schell, U. Fibroblast-growth-factor receptor mutations in human skeletal disorders. Trends Genet 11.308-313 (1995).
9. Hecht J.T. et al. Mutation in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondrodysplasia. Nature Genet.10,325-329 (1995).
10. Briggs, M.D. etal. Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. Nature Genet 10, 330-336(1995).
11. Kotzot D. et al. Uniparental disomy 7 in Silver-Russel syndrome and primordial growth retardation. Hum. Mol. Genet 4,583-587 (1995).
12. Ranke, M.B. Towards a consensus on the definition of idiopathic short stature. Worm. Res. 45,64-67 (1996).
13. Ogata, T. & Matsuo. N. Sex chromosome aberrations and short stature: deduction of the principal factors involved in the determination of adult height. Hum. Genet 91, 551-562(1993).
14. Ullrich, O. Über typische Kombinationsbilder multipler Abartung. Kinderhellkunde 49,271-276(1930).
15. Turner, H.H. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology23,566-674(1938).
16. Zuffardi, O. et al. The role of Yp in sex determination: new evidence from X/Y translocations. Am. J. Med. Genet. 12,175-184 (1982).
17. Curry, CJ.R. et al. Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X-chromosome.AJ.fngJ.J. Med. 311,1010-1015(1984).
18. Ballabio, A. etal. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc WatJ. Acad. Sci. USA 86,10001-10005 (1989).
19. Schaefer, L et al. A high resolution deletion map of human chromosome Xp22. Wature Genet 4,272-279 (1993).
20. Ogata, T., Goodfellow, P., Petit C, Aya, M. & Matsuo, N. Short stature in a girl with a terminal Xp deletion distal to DXY575: localisation of a growth gene(s) in the pseudoautosomal region. J Med. Genet 29,455-459 (1992).
21. Ogata, T. et al. Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignement of the critical region ' for a pseudoautosomal growth genets). J. Med. Genet 32,831-S34 (1995).
22. Henke, A. et al. Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth. Am. J. Hum. Genet 49,811-819(1991).
23. Ried, K. et al. Characterization of a yeast artificial chromosome contig spanning the pseudoautosomal region. Genomics 29,787-792 (1995).
24. Yaspo, M.L.etal. Modelfora transcript map of human chromosome 21: isolation of new coding sequences from exon and enriched cDNA libraries. Hum. Mot. Genet 4,1291-1304(1995).
25. Solovyev, V.V. & Salamov, A.A. http://genome.imb-jena.de/genomedocs/notes23.html
26. Uberbacher, E.C.& Mural, R.J. Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach. Proc. WatJ. Acad. Sci. USA 88,11261-11265(1991).
27. Thomas, A. & Skolnick, M.H. A probabilistic model for detecting coding regions in DNA sequences. IMA J. Math. Appl. Med. Biol. 11,149-160 (1994).
28. Kessel, M. & Gruss, P. Homeotic transformations of murine vertebrae and concomitant alteration of Hox codes induced by retinoic acid. Cell 67,89-104 (1991).
29. Ferrari, D., Kosher, R.A. & Dealy, CN. Limb mesenchymal cells inhibited from undergoing cartilage differentiation by a tumor promoting phorbol ester maintain expression of the homeobox-containing gene MSX1 and fail to exhibit gap junrtional communication. Blochem. Biophys. Res. Comm. 205,429-434 (1994).
30. Cheng, T., Wang, Y. & Dai, W. Trancription factor egr-1 is involved in phorbol 12myristate 13-acetate-induced megakaryocytic differentiation of K562 cells. J. Biol. Chem. 269,30848-30853 (1994).
31. Manohar, C.F, Salwen, H.R., Furtado, M.R. & Cohn, S.L Dp-regulation of HOXC6, HOXD1 and HOXD8 homeobox gene expression in human neuroblastoma cells following chemical induction of differentiation. Tumor Biol. 17,34-47 (1996).
32. Rovescalli, A.C., Asoh, S. & Nirenberg, M. Cloning and characterization of four murine homeobox genes. Proc. WatJ. Acad Sd. USA 93,10691-10696 (1996).
33. Schiebel, K., Weiss, B., Wnhrle, D. & Rappold, G .A. A human pseudoautosomal gene, ADP/ATP translocase, excapes X-inactivation whereas a homologue on Xq is subject to X-inactivation. Nature Genet 3,82-87 (1993).
34. Li, S.ef, al. Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene Pit-1. Nature 347.528-533 (1990).
35. Andersen. B. & Rosenfeld. M.G. Pit-1 determines cell types during development of the anterior pituitary gland. J. Biol. Chem. 269,29335-29338 (1994).
36. Baldwin, C.T, Hoth, CF., Amos. J.A., da-Silva. E.O. & Milunsky, A. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature 355, 637-638(1992).
37. Tassabehji, M. et al. Waardenburg sydrome patients have mutations in the human homologue of the Pax-3 paired box gene. Wafure355, 635-636 (1992).
38. Petrij, F. etal. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 376,348-351 (1995).
39. Ton, C.CT. et al. Positional cloning and characterization of a paired box- and homeobox-containing gene from the Aniridia region. Cell 67,1059-1074(1991).
40. Bardoni, B. etal. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nature Genet 7,497-501 (1994).
41. Rosenfeld, R.G. etal. Recommendation for diagnosis, treatment, and management of individuals with Turner syndrome. Endocrinologist 4,351-358(1995).
42. Hall, J. G. & Gilchrist, D.M. Turner syndrome and its variants. Pedlatr. öin. N. Am. 37, 1421-1436 (1990).
43. Robinson, A. Demography and Prevalence of Turner Syndrome. (Marcel Dekker, New York, 1990).
44. Magenis, R.E. et al. Turner syndrome resulting from partial deletion of Ychromosome short arm: localization of male determinants. J, Pediat. 105,916-919 (1984).
45. Disteche, CM. etal. Small deletions of the short arm of the Y-chromosome in 46.XY females. Proc WatJ. Acad. So. USA 83,7841-7844 (1986).
46. Levilliers, J, Quack, B., Weissenbach, J. & Petit, C Exchange of terminal portions of Xand Y-chromosomal short arms in human XY females. Proc. Natl . Acad. Sci. USA 86, 2296-2300(1989).
47. Ogata, T, Tyler-Smith, C, Purvis-Smith, 5. & Turner, G. Chromosomal localisation of a gene(s) for Turner stigmata on Yp. J. Med. Genet. 30,918-922 (1993).
48. Barbaux, S. et al. Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata. Hum. Mol. Genet 4,1565-1568 (1995).
49. Fisher E.M.C et al. Homologous ribosomal protein genes on the human X and Y chromosomes: Escape from X inactivation and possible implication for Turner syndrome. Cell 63,1205-1218(1990).
50. Burgoyne, S.P. Thumbs down for zinc finger? Nature 342,860-862 (1989).
51. Ashworth, A., Rastan, S., Lovell-Badge, R & Kay, G. X-chromosome inactivation may explain the difference in viability of XO humans and mice. Nature 351, 406-408 (1991).
52. Burgoyne, P.S., Evans, E.P. & Holland, K. XO monosomy is associated with reduced birthweight and lowered weight gain in the mouse. J. Reprod. Fertil. 68, 381-385 (1983).
53. Disteche, CM. et al. The human pseudoautosomal CM-CSF receptor subunit gene is autosomal in mouse. Nature Genet. 1.333-336 (1992).
54. Milatovich, A., Kitamura, T., Miyajima, A. & Francke, U. Gene for the alpha-subunit of the human interleukin-3 receptor (IL3RA) localized to the X-Y pseudoautosoma! region. Am. J. Hum. Gene t. 53,1146-1153 (1993).
55. Lehrach, H. etal. Hybridisation fingerprinting in genome mapping and sequencing, in Genome Analysis Vol. 1 (eds Davies K.E., Tilghman, S.) (Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York ,1990).
56. Page, D.C et al. Linkage, physical mapping and DNA sequence analysis of pseudoautosomal loci on the human X and Y chromosomes. Genomics 1, 243-256 (1987).
57. Bairoch, A. PROSITE: a dictionary of sites and patterns in proteins. Nucl. Acids Res. 20, suppl. 2013-2018 (1992).
58. Gout, I. et al. The GTPase dynamin binds to and is activated by a subset of SH3 domains. Cell 75, 25-36 (1993).
59. Ren, R., Mayer, BJ., Cicchetti, P. & Baltimore, D. Identification of a ten-amino acid proline-rich SH3 binding site. Science 259,1157-1161 (1993).
60. Kulharya, A.S. etal. Mild phenotypic effects of a de novo deletion Xpter → Xp22.3 and duplication 3pter- 3p23.xVn. J. Med. Genet. 56,16-21 (1995).
61. Ogata, T. & Matsuo, N. (1997). The Y-specific growth gene(s): how does it promote the stature? (in the press).
62. Lichter, P. & Cremer, T. Human Cytogenetics: A Practical Approach (IRL/Oxford Univ. Press, Oxford/New York/Tokyo. 1992).
63. Burn, T.C, Connors, T.D., Klinger, K.W. & Landes, M.L Increased exon-trapping efficiency through modification to the pSPL3 splicing vector. Gene 161, 183-187 (1995).
64. Church, D.M. etal. Isolation of genes from complex sources of mammalian genomic DNA using exon amplification. Nature Genet 6,98-105 (1994).
65. Frohman, M.A., Dush, M.K. & Martin, G.R. Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer. Proc. WatJ. -Acad. So. USA 85,8998-9020 (1988).
66. Orita, M., Suzuki, Y., Sekiya, T. & Hayashi, K. Rapid and sensitive detection of point mutations and polymorphisms using the polymerase chain reaction. Genomics 5, 874-879(1989).
67. Qiagen TGGE Handbook, Diagen GmbH, TGMA 4112 3/93. (1993).