The pseudoautosomal regions, SHOX and disease

Current Opinion in Genetics and Development

Volumn 16, Issue 3, 2006, Pages 233-239

  Blaschke, Rüdiger Jörg ^a   Rappold, Gudrun ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BONE DEVELOPMENT; CARTILAGE CELL; CELL DIFFERENTIATION; CELL MATURATION; CORRELATION ANALYSIS; DNA STRUCTURE; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HOMEOBOX; HUMAN; HUMAN GENOME; INHERITANCE; MEIOSIS; MOLECULAR EVOLUTION; NONHUMAN; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN PHOSPHORYLATION; REVIEW; SEX CHROMOSOME; SHORT STATURE; SHORT STATURE HOMEOBOX GENE; TURNER SYNDROME; X CHROMOSOME; X CHROMOSOME INACTIVATION; Y CHROMOSOME;

ANIMALS; CHROMOSOMES; DISEASE; DISEASE SUSCEPTIBILITY; HOMEODOMAIN PROTEINS; HUMANS; MUTATION;

MAMMALIA;

EID: 33646529396     PISSN: 0959437X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.gde.2006.04.004     Document Type: Review

References (48)

1. Charlesworth D., Charlesworth B., and Marais G. Steps in the evolution of heteromorphic sex chromosomes. Heredity 95 (2005) 118-128. The authors give a comprehensive overview of sex chromosome evolution and discuss the evolutionary forces responsible for the genesis of the sex chromosomes in a diversity of species. They review evidence that suppression of recombination occurs independently in several cases and discuss the role of the nascent Y chromosome in driving this process.
2. Charlesworth B., and Charlesworth D. The degeneration of Y chromosomes. Philos Trans R Soc Lond B Biol Sci 355 (2000) 1563-1572
3. Graves J.A., Wakefield M.J., and Toder R. The origin and evolution of the pseudoautosomal regions of human sex chromosomes. Hum Mol Genet 7 (1998) 1991-1996
4. Cooke H.J., Brown W.R., and Rappold G.A. Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal. Nature 317 (1985) 687-692
5. Lien S., Szyda J., Schechinger B., Rappold G., and Arnheim N. Evidence for heterogeneity in recombination in the human pseudoautosomal region: high resolution analysis by sperm typing and radiation-hybrid mapping. Am J Hum Genet 66 (2000) 557-566
6. Rouyer F., Simmler M.C., Johnsson C., Vergnaud G., Cooke H.J., and Weissenbach J. A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes. Nature 319 (1986) 291-295
7. Mohandas T.K., Speed R.M., Passage M.B., Yen P.H., Chandley A.C., and Shapiro L.J. Role of the pseudoautosomal region in sex-chromosome pairing during male meiosis: meiotic studies in a man with a deletion of distal Xp. Am J Hum Genet 51 (1992) 526-533
8. Li L., and Hamer D.H. Recombination and allelic association in the Xq/Yq homology region. Hum Mol Genet 4 (1995) 2013-2016
9. Charchar F.J., Svartman M., El-Mogharbel N., Ventura M., Kirby P., Matarazzo M.R., Ciccodicola A., Rocchi M., D'Esposito M., and Graves J.A. Complex events in the evolution of the human pseudoautosomal region 2 (PAR2). Genome Res 13 (2003) 281-286
10. Ciccodicola A., D'Esposito M., Esposito T., Gianfrancesco F., Migliaccio C., Miano M.G., Matarazzo M.R., Vacca M., Franze A., Cuccurese M., et al. Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region. Hum Mol Genet 9 (2000) 395-401
11. Perry J., Palmer S., Gabriel A., and Ashworth A. A short pseudoautosomal region in laboratory mice. Genome Res 11 (2001) 1826-1832
12. Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., et al. The DNA sequence of the human X chromosome. Nature 434 (2005) 325-337. This is a milestone publication on the nearly completed sequence of the human X chromosome. The authors summarize the overall structural properties and the gene content of the X chromosome. They give detailed information on the conservation between the X and Y chromosomes and novel insights into the evolution of the human X chromosome.
13. Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., et al. DNA sequence and analysis of human chromosome 9. Nature 429 (2004) 369-374
14. Ried K., Rao E., Schiebel K., and Rappold G.A. Gene duplications as a recurrent theme in the evolution of the human pseudoautosomal region 1: isolation of the gene ASMTL. Hum Mol Genet 7 (1998) 1771-1778
15. May C.A., Shone A.C., Kalaydjieva L., Sajantila A., and Jeffreys A.J. Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX. Nat Genet 31 (2002) 272-275
16. Marais G., and Charlesworth B. Genome evolution: recombination speeds up adaptive evolution. Curr Biol 13 (2003) R68-R70
17. Lercher M.J., and Hurst L.D. Human SNP variability and mutation rate are higher in regions of high recombination. Trends Genet 18 (2002) 337-340
18. Jeffreys A.J., and May C.A. Intense and highly localized gene conversion activity in human meiotic crossover hot spots. Nat Genet 36 (2004) 151-156
19. Skaletsky H., Kuroda-Kawaguchi T., Minx P.J., Cordum H.S., Hillier L., Brown L.G., Repping S., Pyntikova T., Ali J., Bieri T., et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423 (2003) 825-837. The authors report on the male-specific sequence of the Y chromosome, characterized by a high content of palindromic repeat blocks, and they uncover gene conversion as an important mechanism of Y chromosome evolution.
20. Gianfrancesco F., Sanges R., Esposito T., Tempesta S., Rao E., Rappold G., Archidiacono N., Graves J.A., Forabosco A., and D'Urso M. Differential divergence of three human pseudoautosomal genes and their mouse homologs: implications for sex chromosome evolution. Genome Res 11 (2001) 2095-2100
21. Galtier N. Recombination, GC-content and the human pseudoautosomal boundary paradox. Trends Genet 20 (2004) 347-349. This is an interesting, state of the art overview on the analysis and comparison of the pseudoautosomal regions in human and mouse. With a focus on recombination, the authors describe the situation at the pseudoautosomal boundaries and the nature of forces driving GC-content evolution in mammalian genomes.
22. Ellis N.A., Tippett P., Petty A., Reid M., Weller P.A., Ye T.Z., German J., Goodfellow P.N., Thomas S., and Banting G. PBDX is the XG blood group gene. Nat Genet 8 (1994) 285-290
23. Ellis N.A., Ye T.Z., Patton S., German J., Goodfellow P.N., and Weller P. Cloning of PBDX, an MIC2-related gene that spans the pseudoautosomal boundary on chromosome Xp. Nat Genet 6 (1994) 394-400
24. Yi S., Summers T.J., Pearson N.M., and Li W.H. Recombination has little effect on the rate of sequence divergence in pseudoautosomal boundary 1 among humans and great apes. Genome Res 14 (2004) 37-43
25. Kuroki Y., Toyoda A., Noguchi H., Taylor T.D., Itoh T., Kim D.S., Kim D.W., Choi S.H., Kim I.C., Choi H.H., et al. Comparative analysis of chimpanzee and human Y chromosomes unveils complex evolutionary pathway. Nat Genet 38 (2006) 158-167
26. Bussell J.J., Pearson N.M., Kanda R., Filatov D.A., and Lahn B.T. Human polymorphism and human-chimpanzee divergence in pseudoautosomal region correlate with local recombination rate. Gene 368 (2006) 94-100
27. Filatov D.A. A gradient of silent substitution rate in the human pseudoautosomal region. Mol Biol Evol 21 (2004) 410-417
28. Filatov D.A., and Gerrard D.T. High mutation rates in human and ape pseudoautosomal genes. Gene 317 (2003) 67-77
29. Clement-Jones M., Schiller S., Rao E., Blaschke R.J., Zuniga A., Zeller R., Robson S.C., Binder G., Glass I., Strachan T., et al. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet 9 (2000) 695-702
30. Blaschke R.J., and Rappold G.A. SHOX: growth, Leri-Weill and Turner syndromes. Trends Endocrinol Metab 11 (2000) 227-230
31. Ballabio A., Bardoni B., Carrozzo R., Andria G., Bick D., Campbell L., Hamel B., Ferguson-Smith M.A., Gimelli G., Fraccaro M., et al. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci USA 86 (1989) 10001-10005
32. Ellison J.W., Wardak Z., Young M.F., Gehron Robey P., Laig-Webster M., and Chiong W. PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Hum Mol Genet 6 (1997) 1341-1347
33. Rao E., Weiss B., Fukami M., Rump A., Niesler B., Mertz A., Muroya K., Binder G., Kirsch S., Winkelmann M., et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 16 (1997) 54-63
34. Belin V., Cusin V., Viot G., Girlich D., Toutain A., Moncla A., Vekemans M., Le Merrer M., Munnich A., and Cormier-Daire V. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet 19 (1998) 67-69
35. Shears D.J., Vassal H.J., Goodman F.R., Palmer R.W., Reardon W., Superti-Furga A., Scambler P.J., and Winter R.M. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nat Genet 19 (1998) 70-73
36. Rappold G.A., Fukami M., Niesler B., Schiller S., Zumkeller W., Bettendorf M., Heinrich U., Vlachopapadoupoulou E., Reinehr T., Onigata K., et al. Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. J Clin Endocrinol Metab 87 (2002) 1402-1406
37. Schiller S., Spranger S., Schechinger B., Fukami M., Merker S., Drop S.L., Troger J., Knoblauch H., Kunze J., Seidel J., et al. Phenotypic variation and genetic heterogeneity in Leri-Weill syndrome. Eur J Hum Genet 8 (2000) 54-62
38. Morizio E., Stuppia L., Gatta V., Fantasia D., Guanciali Franchi P., Rinaldi M.M., Scarano G., Concolino D., Giannotti A., Verrotti A., et al. Deletion of the SHOX gene in patients with short stature of unknown cause. Am J Med Genet A 119 (2003) 293-296
39. Binder G., Ranke M.B., and Martin D.D. Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature. J Clin Endocrinol Metab 88 (2003) 4891-4896
40. Niesler B., Fischer C., and Rappold G.A. The human SHOX mutation database. Hum Mutat 20 (2002) 338-341
41. Blaschke R.J., Topfer C., Marchini A., Steinbeisser H., Janssen J.W., and Rappold G.A. Transcriptional and translational regulation of the Leri-weill and Turner syndrome homeobox gene SHOX. J Biol Chem 278 (2003) 47820-47826
42. Munns C.J., Haase H.R., Crowther L.M., Hayes M.T., Blaschke R., Rappold G., Glass I.A., and Batch J.A. Expression of SHOX in human fetal and childhood growth plate. J Clin Endocrinol Metab 89 (2004) 4130-4135
43. Marchini A., Marttila T., Winter A., Caldeira S., Malanchi I., Blaschke R.J., Hacker B., Rao E., Karperien M., Wit J.M., et al. The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes. J Biol Chem 279 (2004) 37103-37114. This report connects for the first time the expression of SHOX with cell cycle arrest and apoptosis in primary chondrocytes. This observation implicates an interesting hypothesis on the SHOX function in vivo and paves the ground for an understanding of SHOX-associated phenotypes on a cellular level.
44. Marchini A., Daeffler L., Marttila T., Schneider K.U., Blaschke R.J., Schnolzer M., Rommelaere J., and Rappold G. Phosphorylation on Ser106 modulates the cellular functions of the SHOX homeodomain protein. J Mol Biol 355 (2006) 590-603
45. Sabherwal N., Schneider K.U., Blaschke R.J., Marchini A., and Rappold G. Impairment of SHOX nuclear localization as a cause for Leri-Weill syndrome. J Cell Sci 117 (2004) 3041-3048
46. Schneider K.U., Marchini A., Sabherwal N., Roth R., Niesler B., Marttila T., Blaschke R.J., Lawson M., Dumic M., and Rappold G. Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis. Hum Mutat 26 (2005) 44-52
47. Benito-Sanz S., Thomas N.S., Huber C., Gorbenko del Blanco D., Aza-Carmona M., Crolla J.A., Maloney V., Rappold G., Argente J., Campos-Barros A., et al. A novel class of pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. Am J Hum Genet 77 (2005) 533-544
48. Fukami M., Kato F., Tajima T., Yokoya S., and Ogata T. Transactivation function of an ∼800-bp evolutionarily conserved sequence at the SHOX 3′ region: implication for the downstream enhancer. Am J Hum Genet 78 (2006) 167-170