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Comment
. 2006 Mar;78(3):523-5.
doi: 10.1086/500958.

A second recombination hotspot associated with SHOX deletions

Andrew R Zinn, Purita Ramos, Judith L Ross
Comment

A second recombination hotspot associated with SHOX deletions

Andrew R Zinn et al. Am J Hum Genet. 2006 Mar.
No abstract available

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Figures

Figure 1
Figure 1
Diagram showing relative locations of SHOX gene (box), microsatellite markers, contigs (horizontal lines), and deletion breakpoint hotspots. Scale is numbered according to human (May 2004; hg17) assembly (UCSC Genome Browser).
See this image and copyright information in PMC

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References

Web Resources

    1. GDB Human Genome Database, http://www.gdb.org/ (for microsatellite markers DXYS233 and DXYS234)
    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for LWD, SHOX, and idiopathic short stature)
    1. UCSC Genome Browser, http://genome.ucsc.edu (for STS markers at the Human [Homo sapiens] Genome Browser Gateway)

References

    1. Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich A, Cormier-Daire V (1998) SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet 19:67–69 - PubMed
    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 (1997) Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 16:54–6310.1038/ng0597-54 - DOI - PubMed
    1. Ried K, Rao E, Schiebel K, Rappold GA (1998) Gene duplications as a recurrent theme in the evolution of the human pseudoautosomal region 1: isolation of the gene ASMTL. Hum Mol Genet 7:1771–177810.1093/hmg/7.11.1771 - DOI - PubMed
    1. Ross JL, Roeltgen D, Kushner H, Wei F, Zinn AR (2000) The Turner syndrome–associated neurocognitive phenotype maps to distal Xp. Am J Hum Genet 67:672–681 - PMC - PubMed
    1. Ross JL, Scott C Jr, Marttila P, Kowal K, Nass A, Papenhausen P, Abboudi J, Osterman L, Kushner H, Carter P, Ezaki M, Elder F, Wei F, Chen H, Zinn AR (2001) Phenotypes associated with SHOX deficiency. J Clin Endocrinol Metab 86:5674–568010.1210/jc.86.12.5674 - DOI - PubMed

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