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Gene encoding the beta subunit of S100 protein is on chromosome 21: implications for Down syndrome.

作者信息

Allore R, O'Hanlon D, Price R, Neilson K, Willard H F, Cox D R, Marks A, Dunn R J

机构信息

Department of Medical Genetics, University of Toronto, Ontario, Canada.

出版信息

Science. 1988 Mar 11;239(4845):1311-3. doi: 10.1126/science.2964086.

DOI:10.1126/science.2964086
PMID:2964086
Abstract

S100 protein is a calcium-binding protein found predominantly in the vertebrate nervous system. Genomic and complementary DNA probes were used in conjunction with a panel of rodent-human somatic cell hybrids to assign the gene for the beta subunit of S100 protein to the distal half of the long arm of human chromosome 21. This gene was identified as a candidate sequence which, when expressed in the trisomic state, may underlie the neurologic disturbances in Down syndrome.

摘要

相似文献

1
Gene encoding the beta subunit of S100 protein is on chromosome 21: implications for Down syndrome.
Science. 1988 Mar 11;239(4845):1311-3. doi: 10.1126/science.2964086.
2
Refined sublocalization of the human gene encoding the beta subunit of the S100 protein (S100B) and confirmation of a subtle t(9;21) translocation using in situ hybridization.人类S100蛋白β亚基(S100B)编码基因的精细亚定位及应用原位杂交技术对微小t(9;21)易位的确认
Cytogenet Cell Genet. 1989;50(4):234-5. doi: 10.1159/000132767.
3
S100 protein and Down syndrome.S100蛋白与唐氏综合征。
Bioessays. 1990 Aug;12(8):381-3. doi: 10.1002/bies.950120806.
4
Structure and chromosome assignment of human S100 alpha and beta subunit genes.人类S100α和β亚基基因的结构与染色体定位
Biochem Biophys Res Commun. 1991 Feb 28;175(1):185-91. doi: 10.1016/s0006-291x(05)81218-5.
5
Mapping of the gene encoding the beta-amyloid precursor protein and its relationship to the Down syndrome region of chromosome 21.β-淀粉样前体蛋白编码基因的定位及其与21号染色体唐氏综合征区域的关系。
Proc Natl Acad Sci U S A. 1988 Nov;85(21):8266-70. doi: 10.1073/pnas.85.21.8266.
6
Site specific mapping of chromosome 21 gene probes and the study of Down syndrome.
Acta Paediatr Jpn. 1987 Aug;29(4):510-2. doi: 10.1111/j.1442-200x.1987.tb02229.x.
7
Female transgenic mice carrying multiple copies of the human gene for S100 beta are hyperactive.
Behav Brain Res. 1993 May 31;55(1):51-9. doi: 10.1016/0166-4328(93)90006-c.
8
The gene encoding the p60 subunit of chromatin assembly factor I (CAF1P60) maps to human chromosome 21q22.2, a region associated with some of the major features of Down syndrome.编码染色质组装因子I(CAF1P60)p60亚基的基因定位于人类21号染色体q22.2区域,该区域与唐氏综合征的一些主要特征相关。
Hum Genet. 1996 Oct;98(4):497-9. doi: 10.1007/s004390050246.
9
Reduction in S100 protein beta subunit mRNA in C6 rat glioma cells following treatment with anti-microtubular drugs.抗微管药物处理后C6大鼠胶质瘤细胞中S100蛋白β亚基mRNA的减少
J Biol Chem. 1987 Mar 15;262(8):3562-6.
10
Regional localization and characterization of a DNA segment on the long arm of chromosome 21.21号染色体长臂上一个DNA片段的区域定位与特征分析
Hum Genet. 1987 Feb;75(2):129-35. doi: 10.1007/BF00591073.

引用本文的文献

1
S100B actions on glial and neuronal cells in the developing brain: an overview.S100B对发育中大脑的神经胶质细胞和神经元细胞的作用:概述
Front Neurosci. 2024 Jul 4;18:1425525. doi: 10.3389/fnins.2024.1425525. eCollection 2024.
2
Astroglial and microglial pathology in Down syndrome: Focus on Alzheimer's disease.唐氏综合征中的星形胶质细胞和小胶质细胞病理学:聚焦阿尔茨海默病。
Front Cell Neurosci. 2022 Sep 20;16:987212. doi: 10.3389/fncel.2022.987212. eCollection 2022.
3
gene polymorphisms are associated with the S100B level and Alzheimer's disease risk by altering the miRNA binding capacity.
基因多态性通过改变 miRNA 的结合能力与 S100B 水平和阿尔茨海默病风险相关。
Aging (Albany NY). 2021 May 12;13(10):13954-13967. doi: 10.18632/aging.203005.
4
SOX10 transactivates S100B to suppress Schwann cell proliferation and to promote myelination.SOX10通过反式激活S100B来抑制施万细胞增殖并促进髓鞘形成。
PLoS One. 2014 Dec 23;9(12):e115400. doi: 10.1371/journal.pone.0115400. eCollection 2014.
5
Role of Activated Glia and of Glial Cytokines in Alzheimer's Disease: A Review.活化胶质细胞和胶质细胞因子在阿尔茨海默病中的作用:综述
EOS. 1996;16(3-4):80-84.
6
Domoic Acid-Induced Neurotoxicity Is Mainly Mediated by the AMPA/KA Receptor: Comparison between Immature and Mature Primary Cultures of Neurons and Glial Cells from Rat Cerebellum.软骨藻酸诱导的神经毒性主要由AMPA/KA受体介导:大鼠小脑神经元和神经胶质细胞原代培养物未成熟与成熟状态的比较
J Toxicol. 2011;2011:543512. doi: 10.1155/2011/543512. Epub 2011 Nov 2.
7
S100B protein stimulates microglia migration via RAGE-dependent up-regulation of chemokine expression and release.S100B 蛋白通过 RAGE 依赖性趋化因子表达和释放的上调来刺激小胶质细胞迁移。
J Biol Chem. 2011 Mar 4;286(9):7214-26. doi: 10.1074/jbc.M110.169342. Epub 2011 Jan 5.
8
S100B Protein, A Damage-Associated Molecular Pattern Protein in the Brain and Heart, and Beyond.S100B蛋白,一种存在于脑、心脏及其他部位的损伤相关分子模式蛋白。
Cardiovasc Psychiatry Neurol. 2010;2010. doi: 10.1155/2010/656481. Epub 2010 Aug 18.
9
Transcritpional effects of S100B on neuroblastoma cells: perturbation of cholesterol homeostasis and interference on the cell cycle.S100B对神经母细胞瘤细胞的转录作用:胆固醇稳态的扰动及对细胞周期的干扰。
Gene Expr. 2010;14(6):345-59. doi: 10.3727/105221610x12718619643013.
10
S100B Protein Regulates Astrocyte Shape and Migration via Interaction with Src Kinase: IMPLICATIONS FOR ASTROCYTE DEVELOPMENT, ACTIVATION, AND TUMOR GROWTH.S100B蛋白通过与Src激酶相互作用调节星形胶质细胞的形态和迁移:对星形胶质细胞发育、激活及肿瘤生长的影响
J Biol Chem. 2009 Mar 27;284(13):8797-811. doi: 10.1074/jbc.M805897200. Epub 2009 Jan 15.