New roles of SHOX as regulator of target genes

Pediatric Endocrinology Reviews

Volumn 9, Issue SUPPL. 2, 2012, Pages 733-738

  Rappold, Gudrun A ^a   Durand, C ^a   Decker, E ^a   Marchini, A ^a,b   Schneider, K U ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

Author keywords

BNP; FGFR3; SHOX; Target genes; Turner syndrome

Indexed keywords

BRAIN NATRIURETIC PEPTIDE; FIBROBLAST GROWTH FACTOR RECEPTOR; FIBROBLAST GROWTH FACTOR RECEPTOR 3; GROWTH HORMONE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR SHOX; UNCLASSIFIED DRUG;

ACHONDROPLASIA; BODY HEIGHT; BONE GROWTH; CONFERENCE PAPER; DISEASE ASSOCIATION; DYSCHONDROSTEOSIS; GAIN OF FUNCTION MUTATION; GROWTH RATE; HOMEOBOX; HUMAN; PHENOTYPE; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; RECEPTOR GENE; REGULATOR GENE; REGULATORY MECHANISM; SHOX DEFICIENCY; TURNER SYNDROME;

BODY HEIGHT; GENE EXPRESSION REGULATION; GROWTH DISORDERS; HOMEODOMAIN PROTEINS; HUMANS; MUTATION; TURNER SYNDROME;

EID: 84864573684     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (26)

1. Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T, Rappold GA. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and turner syndrome. Nat Genet 1997;16(1):54-63 (Pubitemid 27198156)
2. Ellison JW, Wardak Z, Young MF, Gehron Robey P, Laig-Webster M, Chiong W. Phog, a candidate gene for involvement in the short stature of turner syndrome. Hum Mol Genet 1997;6(8):1341-1347 (Pubitemid 27351076)
3. Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich, A, Cormier-Daire V. SHOX mutations in dyschondrosteosis (leri-weill syndrome). Nat Genet, 1998;19(1):67-69 (Pubitemid 28242026)
4. Shears DJ, Vassal HJ, Goodman FR, Palmer RW, Reardon W, Superti-Furga A, Scambler PJ, Winter RM. Mutation and deletion of the pseudoautosomal gene SHOX cause leri-weill dyschondrosteosis. Nat Genet 1998;19(1):70-73 (Pubitemid 28242027)
5. Rappold G, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA, Ross JL, Niesler B. Genotypes and phenotypes in children with short stature: Clinical indicators of SHOX haploinsufficiency. J Med Genet 2007;44(5):306-313 (Pubitemid 46732624)
6. Blum WF, Crowe BJ, Quigley CA, Jung H, Cao D, Ross JL, Braun L, Rappold G. Growth hormone is effective in treatment of short stature associated with short stature homeoboxcontaining gene deficiency: Two-year results of a randomized, controlled, multicenter trial. J Clin Endocrinol Metab 2007;92(1):219-228 (Pubitemid 46067535)
7. Clement-Jones M, Schiller S, Rao E, Blaschke RJ, Zuniga A, Zeller R, Robson SC, Binder G, Glass I, Strachan T, Lindsay S, Rappold GA. The short stature homeobox gene SHOX is involved in skeletal abnormalities in turner syndrome. Hum Mol Genet 2000;9(5):695-702 (Pubitemid 30162753)
8. Munns CF, Berry M, Vickers D, Rappold GA, Hyland VJ, Glass IA, Batch JA. Effect of 24 months of recombinant growth hormone on height and body proportions in SHOX haploinsufficiency. J Pediatr Endocrinol Metab 2003;16(7):997-1004 (Pubitemid 37259187)
9. Munns CF, Glass IA, Flanagan S, Hayes M, Williams B, Berry M, Vickers D, O'Rourke P, Rao E, Rappold GA, Hyland VJ, Batch JA. Familial growth and skeletal features associated with SHOX haploinsufficiency. J Pediatr Endocrinol Metab 2003;16(7):987-996 (Pubitemid 37259186)
10. Marchini A, Daeffler L, Marttila T, Schneider KU, Blaschke RJ, Schnolzer M, Rommelaere J, Rappold G. Phosphorylation on Ser106 modulates the cellular functions of the SHOX homeodomain protein. J Mol Biol 2006;355(3):590-603 (Pubitemid 41785759)
11. Blaschke RJ, Topfer C, Marchini A, Steinbeisser H, Janssen JW, Rappold GA. Transcriptional and translational regulation of the leri-weill and turner syndrome homeobox gene SHOX. J Biol Chem 2003;278(48):47820-47826 (Pubitemid 37523229)
12. Durand C, Roeth R, Dweep H, Vlatkovic I, Decker E, Schneider KU, Rappold G. Alternative splicing and nonsense-mediated rna decay contribute to the regulation of SHOX expression. PLoS One 2011;6(3):e18115
13. Benito-Sanz S, Thomas NS, Huber C, Gorbenko del Blanco D, Aza-Carmona M, Crolla JA, Maloney V, Rappold G, Argente J, Campos-Barros A, Cormier-Daire V, Heath KE. A novel class of pseudoautosomal region 1 deletions downstream of SHOX is associated with leri-weill dyschondrosteosis. Am J Hum Genet 2005;77(4):533-544 (Pubitemid 41361601)
14. Sabherwal N, Bangs F, Roth R, Weiss B, Jantz K, Tiecke E, Hinkel GK, Spaich C, Hauffa BP, van der Kamp H, Kapeller J, Tickle C, Rappold G. Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients. Hum Mol Genet 2007;16(2):210-222 (Pubitemid 46179003)
15. Durand C, Bangs F, Signolet J, Decker E, Tickle C, Rappold G. Enhancer elements upstream of the SHOX gene are active in the developing limb. Eur J Hum Genet 2010;18(5):527-532
16. Chen J, Wildhardt G, Zhong Z, Roth R, Weiss B, Steinberger D, Decker J, Blum WF, Rappold G. Enhancer deletions of the SHOX gene as a frequent cause of short stature: The essential role of a 250 kb downstream regulatory domain. J Med Genet 2009;46(12):834-839
17. Yasoda A, Ogawa Y, Suda M, Tamura N, Mori K, Sakuma Y, Chusho H, Shiota K, Tanaka K, Nakao K. Natriuretic peptide regulation of endochondral ossification. Evidence for possible roles of the c-type natriuretic peptide/guanylyl cyclase-b pathway. J Biol Chem 1998; 273(19):11695-11700 (Pubitemid 28272071)
18. Chusho H, Ogawa Y, Tamura N, Suda M, Yasoda A, Miyazawa T, Kishimoto I, Komatsu Y, Itoh H, Tanaka K, Saito Y, Garbers DL, Nakao K. Genetic models reveal that brain natriuretic peptide can signal through different tissue-specific receptor-mediated pathways. Endocrinology 2000;141(10):3807-3813
19. Bartels CF, Bukulmez H, Padayatti P, Rhee DK, van Ravenswaaij-Arts C, Pauli RM, Mundlos S, Chitayat D, Shih LY, Al-Gazali LI, Kant S, Cole T, Morton J, Cormier-Daire V, Faivre L, Lees M, Kirk J, Mortier GR, Leroy J, Zabel B, Kim CA, Crow Y, Braverman NE, van den Akker F, Warman ML. Mutations in the transmembrane natriuretic peptide receptor npr-b impair skeletal growth and cause acromesomelic dysplasia, type maroteaux. Am J Hum Genet 2004;75(1):27-34 (Pubitemid 38801898)
20. Suda M, Ogawa Y, Tanaka K, Tamura N, Yasoda A, Takigawa T, Uehira M, Nishimoto H, Itoh H, Saito Y, Shiota K, Nakao K. Skeletal overgrowth in transgenic mice that overexpress brain natriuretic peptide. Proc Natl Acad Sci U S A 1998;95(5):2337-2342 (Pubitemid 28145942)
21. Yasoda A, Komatsu Y, Chusho H, Miyazawa T, Ozasa A, Miura M, Kurihara T, Rogi T, Tanaka S, Suda M, Tamura N, Ogawa Y, Nakao K. Overexpression of cnp in chondrocytes rescues achondroplasia through a mapk-dependent pathway. Nat Med 2004;10(1):80-86 (Pubitemid 38524702)
22. Marchini A, Hacker B, Marttila T, Hesse V, Emons J, Weiss B, Karperien M, Rappold G. Bnp is a transcriptional target of the short stature homeobox gene SHOX. Hum Mol Genet 2007;16(24):3081-3887
23. Laederich MB, Horton WA. Achondroplasia: Pathogenesis and implications for future treatment. Curr Opin Pediatr 2010;22(4):516-523
24. Decker E, Durand C, Bender S, Rodelsperger C, Glaser A, Hecht J, Schneider KU, Rappold G. Fgfr3 is a target of the homeobox transcription factor SHOX in limb development. Hum Mol Genet 2011;20(8):1524-1535
25. Yasoda A, Kitamura H, Fujii T, Kondo E, Murao N, Miura M, Kanamoto N, Komatsu Y, Arai H, Nakao K. Systemic administration of c-type natriuretic peptide as a novel therapeutic strategy for skeletal dysplasias. Endocrinology 2009;150(7):3138-3144
26. Lee CY, Chen HH, Lisy O, Swan S, Cannon C, Lieu HD, Burnett JC, Jr. Pharmacodynamics of a novel designer natriuretic peptide, cd-np, in a first-in-human clinical trial in healthy subjects. J Clin Pharmacol 2009;49(6):668-673