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

作者信息

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

出版信息

Am J Hum Genet. 2006 Jan;78(1):167-70. doi: 10.1086/499254.

DOI:10.1086/499254
PMID:16385461
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1380216/
Abstract
摘要

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Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3' region: implication for the downstream enhancer.SHOX基因3'区域一个约800个碱基对的进化保守序列的反式激活功能：对下游增强子的影响
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Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.远距离保守非编码SHOX序列调节发育中的鸡肢体的表达，并与人类患者的身材矮小表型相关。
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Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer.首次在 Léri-Weill 软骨发育不全症和特发性身材矮小症中发现 PAR1 缺失的重现，揭示了一种新的 SHOX 增强子的存在。
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Rare and duplications containing in clubfoot.罕见的并足畸形中存在的重复。
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Heterozygous Deletion of the Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI.两名临床表型异质性女性中与X染色体失活偏斜和逃避X染色体失活相关的基因增强子杂合缺失
Front Genet. 2019 Nov 6;10:1086. doi: 10.3389/fgene.2019.01086. eCollection 2019.
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Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness.在常规诊断实践中检测SHOX基因畸变及评估表型评分表的有效性。
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SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature.SHOX基因单倍剂量不足作为综合征性和非综合征性身材矮小的一个病因
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本文引用的文献

1
A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.SHOX下游一类新的假常染色体区域1缺失与Leri-Weill软骨骨生成障碍相关。
Am J Hum Genet. 2005 Oct;77(4):533-44. doi: 10.1086/449313. Epub 2005 Aug 15.
2
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.一名45,X/46,X,r(X)婴儿的SHOX 3'区域微缺失与朗格中肢发育不全的骨骼表型相关，其46,XX母亲患有勒里-韦伊软骨发育不全：对SHOX增强子的影响
Am J Med Genet A. 2005 Aug 15;137(1):72-6. doi: 10.1002/ajmg.a.30852.
3
Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX.Leri-Weill和特纳综合征同源盒基因SHOX的转录和翻译调控
J Biol Chem. 2003 Nov 28;278(48):47820-6. doi: 10.1074/jbc.M306685200. Epub 2003 Sep 5.
4
Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood.儿童马德隆畸形中含矮小同源框基因（SHOX）的突变患病率。
J Med Genet. 2002 Oct;39(10):758-63. doi: 10.1136/jmg.39.10.758.
5
The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator.勒里-韦伊综合征和特纳综合征同源盒基因SHOX编码一种细胞类型特异性转录激活因子。
Hum Mol Genet. 2001 Dec 15;10(26):3083-91. doi: 10.1093/hmg/10.26.3083.
6
The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.矮小同源盒基因SHOX与特纳综合征的骨骼异常有关。
Hum Mol Genet. 2000 Mar 22;9(5):695-702. doi: 10.1093/hmg/9.5.695.
7
Conserved regulation of proximodistal limb axis development by Meis1/Hth.Meis1/Hth对肢体近远轴发育的保守调控
Nature. 1999 Nov 25;402(6760):425-9. doi: 10.1038/46580.
8
PBX and MEIS as non-DNA-binding partners in trimeric complexes with HOX proteins.PBX和MEIS作为与HOX蛋白形成三聚体复合物的非DNA结合伴侣。
Mol Cell Biol. 1999 Nov;19(11):7577-88. doi: 10.1128/MCB.19.11.7577.
9
Hox genes in digit development and evolution.
Cell Tissue Res. 1999 Apr;296(1):19-25. doi: 10.1007/s004410051262.