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果蝇的视网膜退化。

Retinal degeneration in the fly.

机构信息

Department of Ophthalmology and Visual Sciences and Department of Genetics, and UW-Eye Research Institute, University of Wisconsin, Madison, WI 53792, USA.

出版信息

Adv Exp Med Biol. 2012;723:407-14. doi: 10.1007/978-1-4614-0631-0_52.

DOI:10.1007/978-1-4614-0631-0_52
PMID:22183359
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3441143/
Abstract

Many genes are functionally equivalent between flies and humans. In addition, the same, or similar, mutations cause disease in both species. In fact, nearly three-fourths of all human disease genes have related sequences in Drosophila. The fly has a relatively small genome, made up of about 13,600 genes in four pairs of chromosomes. However, despite the dramatic differences in size and apparent complexity between humans and flies--we have less than twice as many genes as a fly--our genome is estimated to be made up of only 20,000-25,000 genes contained in 23 pairs of chromosomes. Therefore, despite the fly's perceived simplicity, or our perceived complexity, our genetic makeup may not be all that different. Its versatility for genetic manipulation and convenience for unraveling fundamental biological processes continue to guarantee the fly a place in the spotlight for unraveling the basis of and therapeutic treatments for human eye diseases.

摘要

许多基因在果蝇和人类之间具有相同的功能。此外,相同或相似的突变会导致两种物种患病。事实上,几乎所有人类疾病基因的四分之三都在果蝇中具有相关序列。果蝇的基因组相对较小,由四条染色体上的约 13600 个基因组成。然而,尽管人类和果蝇在大小和明显的复杂性上存在显著差异——我们的基因数量比果蝇少不到两倍——但我们的基因组估计仅由 23 对染色体上的 20000-25000 个基因组成。因此,尽管果蝇看起来简单,或者我们看起来复杂,我们的基因构成可能并没有那么不同。它在遗传操作上的多功能性和在揭示基本生物学过程方面的便利性,继续保证了果蝇在揭示人类眼部疾病的基础和治疗方法方面处于焦点位置。

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Adv Exp Med Biol. 2012;723:407-14. doi: 10.1007/978-1-4614-0631-0_52.
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TRP and Rhodopsin Transport Depends on Dual XPORT ER Chaperones Encoded by an Operon.瞬时受体电位通道蛋白(TRP)和视紫红质的转运依赖于由一个操纵子编码的双XPORT内质网伴侣蛋白。
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本文引用的文献

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TRPM1: a vertebrate TRP channel responsible for retinal ON bipolar function.瞬时受体电位阳离子通道亚家族 M 成员 1:一种脊椎动物 TRP 通道,负责视网膜 ON 双极细胞功能。
Cell Calcium. 2010 Aug-Sep;48(2-3):95-101. doi: 10.1016/j.ceca.2010.08.004. Epub 2010 Sep 16.
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Calnexin deficiency leads to dysmyelination.钙连蛋白缺乏会导致髓鞘形成异常。
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TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.在常染色体隐性完全先天性静止性夜盲症患者中,瞬时受体电位阳离子通道亚家族M成员1(TRPM1)发生了突变。
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Melanopsin ganglion cells use a membrane-associated rhabdomeric phototransduction cascade.黑视蛋白神经节细胞利用一种与膜相关的视小杆光转导级联反应。
J Neurophysiol. 2008 May;99(5):2522-32. doi: 10.1152/jn.01066.2007. Epub 2008 Feb 27.
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Cell fate in the Drosophila ommatidium.果蝇复眼中的细胞命运。
Dev Biol. 1987 Sep;123(1):264-75. doi: 10.1016/0012-1606(87)90448-9.
6
2-Aminoethoxydiphenylborane is an acute inhibitor of directly photosensitive retinal ganglion cell activity in vitro and in vivo.2-氨基乙氧基二苯硼烷是一种在体外和体内对直接感光视网膜神经节细胞活性的急性抑制剂。
J Neurosci. 2007 Apr 11;27(15):3981-6. doi: 10.1523/JNEUROSCI.4716-06.2007.
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Contributions of genetics to our understanding of inherited monogenic retinal diseases and age-related macular degeneration.遗传学在我们对遗传性单基因视网膜疾病和年龄相关性黄斑变性的理解中的贡献。
Arch Ophthalmol. 2007 Feb;125(2):160-4. doi: 10.1001/archopht.125.2.160.
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Insights on TRP channels from in vivo studies in Drosophila.果蝇体内研究对瞬时受体电位(TRP)通道的见解。
Annu Rev Physiol. 2006;68:649-84. doi: 10.1146/annurev.physiol.68.040204.100939.
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