메뉴 건너뛰기




Volumn 16, Issue 2, 2007, Pages 210-222

Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLOBIN; CIS ACTING ELEMENT; GREEN FLUORESCENT PROTEIN; HOMEODOMAIN PROTEIN; HOMEODOMAIN PROTEIN SHOX; UNCLASSIFIED DRUG;

EID: 33846617772     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddl470     Document Type: Article
Times cited : (104)

References (40)
  • 1
    • 0035479838 scopus 로고    scopus 로고
    • Genetic control of skeletal development
    • Wagner, E.F. and Karsenty, G. (2001) Genetic control of skeletal development. Curr. Opin. Genet. Dev., 11, 527-532.
    • (2001) Curr. Opin. Genet. Dev. , vol.11 , pp. 527-532
    • Wagner, E.F.1    Karsenty, G.2
  • 2
    • 0141958539 scopus 로고    scopus 로고
    • Genetic analysis of short stature
    • Kant, S.G., Wit, J.M. and Breuning, M.H. (2003) Genetic analysis of short stature. Horm. Res., 60, 157-165.
    • (2003) Horm. Res. , vol.60 , pp. 157-165
    • Kant, S.G.1    Wit, J.M.2    Breuning, M.H.3
  • 4
    • 0030940217 scopus 로고    scopus 로고
    • Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
    • Rao, E., Weiss, B., Fukami, M., Rump, A., Niesler, B., Mertz, A., Muroya, K., Binder, G., Kirsch, S., Winkelmann, M. et al. (1997) Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat. Genet., 16, 54-63.
    • (1997) Nat. Genet. , vol.16 , pp. 54-63
    • Rao, E.1    Weiss, B.2    Fukami, M.3    Rump, A.4    Niesler, B.5    Mertz, A.6    Muroya, K.7    Binder, G.8    Kirsch, S.9    Winkelmann, M.10
  • 9
    • 0036160517 scopus 로고    scopus 로고
    • Allelic and non-allelic heterogeneity in dyschondrosteosis (Léri-Weill syndrome)
    • Cormier-Daire, V., Huber, C. and Munnich, A. (2001) Allelic and non-allelic heterogeneity in dyschondrosteosis (Léri-Weill syndrome). Am. J. Med. Genet., 106, 272-274.
    • (2001) Am. J. Med. Genet. , vol.106 , pp. 272-274
    • Cormier-Daire, V.1    Huber, C.2    Munnich, A.3
  • 16
    • 0242351788 scopus 로고    scopus 로고
    • Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature
    • Binder, G., Ranke, M.B. and Martin, D.D. (2003) 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, 4891-4896.
    • (2003) J. Clin. Endocrinol. Metab. , vol.88 , pp. 4891-4896
    • Binder, G.1    Ranke, M.B.2    Martin, D.D.3
  • 17
    • 33749245482 scopus 로고    scopus 로고
    • High incidence of SHOX anomalies in patients with short stature
    • and French SHOX module genesis
    • Huber, C., Rossilio, M., Munnich, A., Cormier-Daire, V. and French SHOX genesis module (2006) High incidence of SHOX anomalies in patients with short stature. J. Med. Genet., 43, 735-739.
    • (2006) J. Med. Genet. , vol.43 , pp. 735-739
    • Huber, C.1    Rossilio, M.2    Munnich, A.3    Cormier-Daire, V.4
  • 18
    • 33646529396 scopus 로고    scopus 로고
    • The pseudoautosomal regions, SHOX and disease
    • Blaschke, R.J. and Rappold, G. (2006) The pseudoautosomal regions, SHOX and disease. Curr. Opin. Genet. Dev., 16, 233-239.
    • (2006) Curr. Opin. Genet. Dev. , vol.16 , pp. 233-239
    • Blaschke, R.J.1    Rappold, G.2
  • 19
    • 0035261381 scopus 로고    scopus 로고
    • Genomic strategies to identify mammalian regulatory sequences
    • Pannachio, L.A. and Rubin, E.M. (2001) Genomic strategies to identify mammalian regulatory sequences. Nat. Rev. Genet., 2, 100-109.
    • (2001) Nat. Rev. Genet. , vol.2 , pp. 100-109
    • Pannachio, L.A.1    Rubin, E.M.2
  • 20
    • 11144339384 scopus 로고    scopus 로고
    • Long-range control of gene expression: Emerging mechanisms and disruption in disease
    • Kleinjan, D.A. and van Heyningen, V. (2005) Long-range control of gene expression: Emerging mechanisms and disruption in disease. Am. J. Hum. Genet., 76, 8-32.
    • (2005) Am. J. Hum. Genet. , vol.76 , pp. 8-32
    • Kleinjan, D.A.1    van Heyningen, V.2
  • 21
    • 0035091088 scopus 로고    scopus 로고
    • The use of in ovo electroporation for the rapid analysis of neural-specific murine enhancers
    • Timmer, J., Johnson, J. and Niswander, L. (2001) The use of in ovo electroporation for the rapid analysis of neural-specific murine enhancers. Genesis, 29, 123-132.
    • (2001) Genesis , vol.29 , pp. 123-132
    • Timmer, J.1    Johnson, J.2    Niswander, L.3
  • 22
    • 0346220283 scopus 로고    scopus 로고
    • Transcriptional and translational regulation of the Léri-Weill and Turner syndrome homeobox gene SHOX
    • Blaschke, R.J., Topfer, C., Marchini, A., Steinbeisser, H., Janssen, J.W. and Rappold, G.A. (2003) Transcriptional and translational regulation of the Léri-Weill and Turner syndrome homeobox gene SHOX. J. Biol. Chem., 278, 47820-47826.
    • (2003) J. Biol. Chem. , vol.278 , pp. 47820-47826
    • Blaschke, R.J.1    Topfer, C.2    Marchini, A.3    Steinbeisser, H.4    Janssen, J.W.5    Rappold, G.A.6
  • 23
    • 0033799618 scopus 로고    scopus 로고
    • Active conservation of non-coding sequences revealed by three-way species comparisons
    • Dubchak, I., Brudno, M., Loots, G.G., Pachter, L., Mayor, C., Rubin, E.M. and Frazer, K.A. (2000) Active conservation of non-coding sequences revealed by three-way species comparisons. Genome Res., 10, 1304-1306.
    • (2000) Genome Res. , vol.10 , pp. 1304-1306
    • Dubchak, I.1    Brudno, M.2    Loots, G.G.3    Pachter, L.4    Mayor, C.5    Rubin, E.M.6    Frazer, K.A.7
  • 25
    • 0142084743 scopus 로고    scopus 로고
    • Scanning human gene desert for long-range enhancers
    • Nobrega, M.A., Ovcharenko, I., Afzal, V. and Rubin, E.M. (2003) Scanning human gene desert for long-range enhancers. Science, 302, 413.
    • (2003) Science , vol.302 , pp. 413
    • Nobrega, M.A.1    Ovcharenko, I.2    Afzal, V.3    Rubin, E.M.4
  • 27
    • 2442695243 scopus 로고    scopus 로고
    • Comparison of human chromosome 21 conserved nongenic sequences (CEs) with mouse and dog genomes show that their selective constraint is independent of their genic environment
    • Dermitzakis, E.T., Kirkness, E., Schwarz, S., Birney, E., Reymond, A. and Antonarakis, S.E. (2004) Comparison of human chromosome 21 conserved nongenic sequences (CEs) with mouse and dog genomes show that their selective constraint is independent of their genic environment. Genome Res., 14, 852-859.
    • (2004) Genome Res. , vol.14 , pp. 852-859
    • Dermitzakis, E.T.1    Kirkness, E.2    Schwarz, S.3    Birney, E.4    Reymond, A.5    Antonarakis, S.E.6
  • 28
    • 13144295005 scopus 로고    scopus 로고
    • Conserved non-genic sequences-an expected feature of mammalian genome
    • Dermitzakis, E.T., Reymond, A. and Antonarakis, S.E. (2005) Conserved non-genic sequences-an expected feature of mammalian genome. Nat. Rev. Genet., 6, 151-157.
    • (2005) Nat. Rev. Genet. , vol.6 , pp. 151-157
    • Dermitzakis, E.T.1    Reymond, A.2    Antonarakis, S.E.3
  • 30
    • 33748967708 scopus 로고    scopus 로고
    • Expression of the short stature homeobox gene Shox is restricted by proximal and distal signals in chick limb buds and affects the length of skeletal elements
    • Tiecke, E., Bangs, F., Blaschke, R., Farell, E.R., Rappold, G. and Tickle, C. (2006) Expression of the short stature homeobox gene Shox is restricted by proximal and distal signals in chick limb buds and affects the length of skeletal elements. Dev. Biol., 298, 585-596.
    • (2006) Dev. Biol. , vol.298 , pp. 585-596
    • Tiecke, E.1    Bangs, F.2    Blaschke, R.3    Farell, E.R.4    Rappold, G.5    Tickle, C.6
  • 31
    • 33645519275 scopus 로고    scopus 로고
    • Ancient duplicated conserved noncoding elements in vertebrates: A genomic and functional analysis
    • doi: 10.1101/gr.4143406
    • McEwen, G.K., Woolfe, A., Goode, D., Vavouri, T., Callaway, H. and Elgar, G. (2006) Ancient duplicated conserved noncoding elements in vertebrates: A genomic and functional analysis. Genome Res., doi: 10.1101/gr.4143406.
    • (2006) Genome Res.
    • McEwen, G.K.1    Woolfe, A.2    Goode, D.3    Vavouri, T.4    Callaway, H.5    Elgar, G.6
  • 32
    • 0032478120 scopus 로고    scopus 로고
    • Rappold SHOT, a novel SHOX-related homeobox gene is implicated in craniofacial, brain, heart and limb development
    • Blaschke, R.J., Monaghan, A.P., Schiller, S., Schechinger, B., Rao, E., Padilla-Nash, H. and Ried, T. (1998) Rappold SHOT, a novel SHOX-related homeobox gene is implicated in craniofacial, brain, heart and limb development. PNAS, 95, 2406-2411.
    • (1998) PNAS , vol.95 , pp. 2406-2411
    • Blaschke, R.J.1    Monaghan, A.P.2    Schiller, S.3    Schechinger, B.4    Rao, E.5    Padilla-Nash, H.6    Ried, T.7
  • 33
    • 29244486467 scopus 로고    scopus 로고
    • Transactivation function of an ∼800-bp evolutionarily conserved sequence at the SHOX 3′ region: Implications for the downstream enhancer
    • Fukami, M., Kato, F., Tajima, T., Yokoya, S. and Ogata, T. (2006) Transactivation function of an ∼800-bp evolutionarily conserved sequence at the SHOX 3′ region: Implications for the downstream enhancer. Am. J. Hum. Genet., 78, 167-170.
    • (2006) Am. J. Hum. Genet. , vol.78 , pp. 167-170
    • Fukami, M.1    Kato, F.2    Tajima, T.3    Yokoya, S.4    Ogata, T.5
  • 34
    • 0034782502 scopus 로고    scopus 로고
    • Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6
    • Kleinjan, D.A., Seawright, A., Schedl, A., Quinlan, R.A., Danes, S. and van Heyningen, V. (2001) Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6. Hum. Mol. Genet., 10, 2049-2059.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 2049-2059
    • Kleinjan, D.A.1    Seawright, A.2    Schedl, A.3    Quinlan, R.A.4    Danes, S.5    van Heyningen, V.6
  • 38
    • 15944402131 scopus 로고    scopus 로고
    • Position effects due to chromosome breakpoints that map approximately 99 kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia
    • Velagelati, G.V., Bien-Willner, G.A., Northup, J.K., Lockhart, L.H., Hawkins, J.C., Jalal, S.M., Withers, M., Lupski, J.R. and Stankiewicz, P. (2005) Position effects due to chromosome breakpoints that map approximately 99 kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. Am. J. Hum. Genet., 76, 652-662.
    • (2005) Am. J. Hum. Genet. , vol.76 , pp. 652-662
    • Velagelati, G.V.1    Bien-Willner, G.A.2    Northup, J.K.3    Lockhart, L.H.4    Hawkins, J.C.5    Jalal, S.M.6    Withers, M.7    Lupski, J.R.8    Stankiewicz, P.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.