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Comparative Study
. 2006 Jan;78(1):167-70.
doi: 10.1086/499254.

Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3' region: implication for the downstream enhancer

Maki Fukami, Fumiko Kato, Toshihiro Tajima, Susumu Yokoya, Tsutomu Ogata
Comparative Study

Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3' region: implication for the downstream enhancer

Maki Fukami et al. Am J Hum Genet. 2006 Jan.
No abstract available

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Figures

Figure 1
Figure 1
A, PAR1 deletions in the SHOX downstream region. Top, Pedigrees of families A and B. LWD is exhibited by the mother and the daughter in family A and by the father and the daughter in family B. The height of each subject is expressed as an SD score. Bottom, Deletion maps of the SHOX 3′ region. In families A and B, the blackened segments represent the disomic regions, the unblackened segments depict the monosomic regions, and the striped segments indicate the dosage-unknown region in which the breakpoints should exist. The physical distance (kb) from the Xp/Yp telomere (“Tel”) is shown below the horizontal line. The results of the present study and those reported by Fukami et al. (2005) indicate that the SRO-J spans ∼40 kb in physical length and is largely similar to the SRO-W reported by Benito-Sanz et al. (2005). B, Functional analysis of the ECSs. Top, Seven ECSs (ECS1–ECS7) are identified in the SRO-J (UCSC Genome Browser). Bottom, Transcription analysis of ECS3–ECS6. A luciferase reporter construct has been created with the SV40 or the human SHOX promoter, and each ECS inserted into the 3′ region of the luciferase gene (“Luc”). Only the combination of the SHOX promoter and ECS4 has significantly increased the luciferase activity.
Figure 2
Figure 2
Results of the FISH analysis. Red signals indicate the RP13-167H21 region (thick arrows), and green signals represent DXZ1 (arrowheads) or DYZ3 (thin arrow). The RP13-167H21 region is deleted from one of the two X chromosomes of the mother and the daughter in family A. The signal for RP13-167H21 is obviously weak in one of the sex chromosomes of the father and the daughter in family B, whereas it is similar between the two X chromosomes of the mother.
Figure 3
Figure 3
Nucleotide sequence of ECS4 and putative binding sites for several transcription factors relevant to skeletal development. The human sequence is aligned with the chicken sequence.
See this image and copyright information in PMC

Comment on

References

Web Resources

    1. dbSNP, http://www.ncbi.nlm.nih.gov/projects/SNP/
    1. dbSTS, http://www.ncbi.nlm.nih.gov/dbSTS/
    1. Ensembl Genome Browser, http://www.ensembl.org/
    1. MATINSPECTOR, http://www.genomatix.de/products/MatInspector/MatInspector3.html
    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for LWD and SHOX)

References

    1. Benito-Sanz S, Thomas NS, Huber C, Del Blanco DG, Aza-Carmona M, Crolla JA, Maloney V, Argente J, Campos-Barros Á, Cormier-Daire V, Heath KE (2005) A novel class of pseudoautosomal region 1 deletions downstream of SHOX is associated with Léri-Weill dyschondrosteosis. Am J Hum Genet 77:533–544 - PMC - PubMed
    1. Blaschke RJ, Topfer C, Marchini A, Steinbeisser H, Janssen JW, Rappold GA (2003) Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX. J Biol Chem 278:47820–4782610.1074/jbc.M306685200 - DOI - PubMed
    1. 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 (2000) The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet 9:695–70210.1093/hmg/9.5.695 - DOI - PubMed
    1. Flanagan SF, Munns CF, Hayes M, Williams B, Berry M, Vickers D, Rao E, Rappold GA, Batch JA, Hyland VJ, Glass IA (2002) Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood. J Med Genet 39:758–76310.1136/jmg.39.10.758 - DOI - PMC - PubMed
    1. Fukami M, Okuyama T, Yamamori S, Nishimura G, Ogata T (2005) Microdeletion in the SHOX 3′ region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer. Am J Med Genet A 137:72–76 - PubMed

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