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Morphological defects in a novel Rdh10 mutant that has reduced retinoic acid biosynthesis and signaling.一种新型Rdh10突变体的形态学缺陷，该突变体的视黄酸生物合成和信号传导减少。
Genesis. 2012 May;50(5):415-23. doi: 10.1002/dvg.22002. Epub 2012 Jan 25.
2
Investigation of retinoic acid function during embryonic brain development using retinaldehyde-rescued Rdh10 knockout mice.使用视黄醛挽救的 Rdh10 敲除小鼠研究视黄酸在胚胎大脑发育过程中的功能。
Dev Dyn. 2013 Sep;242(9):1056-65. doi: 10.1002/dvdy.23999. Epub 2013 Jul 22.
3
RDH10 is essential for synthesis of embryonic retinoic acid and is required for limb, craniofacial, and organ development.视黄醇脱氢酶10（RDH10）对胚胎视黄酸的合成至关重要，是肢体、颅面和器官发育所必需的。
Genes Dev. 2007 May 1;21(9):1113-24. doi: 10.1101/gad.1533407.
4
RDH10 oxidation of Vitamin A is a critical control step in synthesis of retinoic acid during mouse embryogenesis.RDH10 对维生素 A 的氧化作用是小鼠胚胎发生过程中视黄酸合成的关键控制步骤。
PLoS One. 2012;7(2):e30698. doi: 10.1371/journal.pone.0030698. Epub 2012 Feb 2.
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Involvement of retinol dehydrogenase 10 in embryonic patterning and rescue of its loss of function by maternal retinaldehyde treatment.视黄醇脱氢酶 10 参与胚胎模式形成，并通过母体视黄醛处理挽救其功能丧失。
Proc Natl Acad Sci U S A. 2011 Oct 4;108(40):16687-92. doi: 10.1073/pnas.1103877108. Epub 2011 Sep 19.
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Retinoic acid synthesis and autoregulation mediate zonal patterning of vestibular organs and inner ear morphogenesis.视黄酸合成和自调节介导前庭器官和内耳形态发生的区域模式。
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Changes in retinoid metabolism and signaling associated with metabolic remodeling during fasting and in type I diabetes.禁食和 1 型糖尿病期间代谢重塑相关的视黄醇代谢和信号转导的变化。
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Retinol dehydrogenase 10 but not retinol/sterol dehydrogenase(s) regulates the expression of retinoic acid-responsive genes in human transgenic skin raft culture.视黄醇脱氢酶 10 而非视黄醇/固醇脱氢酶调节人转基因皮肤筏培养中维甲酸反应基因的表达。
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10
Expression of the murine retinol dehydrogenase 10 (Rdh10) gene correlates with many sites of retinoid signalling during embryogenesis and organ differentiation.小鼠视黄醇脱氢酶10（Rdh10）基因的表达与胚胎发育和器官分化过程中许多类视黄醇信号传导位点相关。
Dev Dyn. 2007 Oct;236(10):2899-908. doi: 10.1002/dvdy.21312.

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Changes in retinoid metabolism and signaling associated with metabolic remodeling during fasting and in type I diabetes.禁食和 1 型糖尿病期间代谢重塑相关的视黄醇代谢和信号转导的变化。
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Methods Enzymol. 2020;637:367-418. doi: 10.1016/bs.mie.2020.03.011. Epub 2020 Apr 21.
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Post-natal all-trans-retinoic acid biosynthesis.产后全反式视黄酸生物合成。
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Generation of Retinaldehyde for Retinoic Acid Biosynthesis.视黄醛的生成用于视黄酸的生物合成。
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Mice lacking the epidermal retinol dehydrogenases SDR16C5 and SDR16C6 display accelerated hair growth and enlarged meibomian glands.缺乏表皮视黄醇脱氢酶 SDR16C5 和 SDR16C6 的小鼠表现出加速的毛发生长和增大的睑板腺。
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本文引用的文献

1
Involvement of retinol dehydrogenase 10 in embryonic patterning and rescue of its loss of function by maternal retinaldehyde treatment.视黄醇脱氢酶 10 参与胚胎模式形成，并通过母体视黄醛处理挽救其功能丧失。
Proc Natl Acad Sci U S A. 2011 Oct 4;108(40):16687-92. doi: 10.1073/pnas.1103877108. Epub 2011 Sep 19.
2
RDH10 is the primary enzyme responsible for the first step of embryonic Vitamin A metabolism and retinoic acid synthesis.RDH10 是负责胚胎维生素 A 代谢和视黄酸合成第一步的主要酶。
Dev Biol. 2011 Sep 15;357(2):347-55. doi: 10.1016/j.ydbio.2011.07.011. Epub 2011 Jul 14.
3
Physiological insights into all-trans-retinoic acid biosynthesis.全反式维甲酸生物合成的生理学见解。
Biochim Biophys Acta. 2012 Jan;1821(1):152-67. doi: 10.1016/j.bbalip.2011.05.004. Epub 2011 May 19.
4
Retinoic acid functions as a key GABAergic differentiation signal in the basal ganglia.视黄酸在基底神经节中作为 GABA 能分化信号发挥作用。
PLoS Biol. 2011 Apr;9(4):e1000609. doi: 10.1371/journal.pbio.1000609. Epub 2011 Apr 12.
5
Rdh10 mutants deficient in limb field retinoic acid signaling exhibit normal limb patterning but display interdigital webbing.Rdh10 突变体在肢体场视黄酸信号传导中缺失，表现出正常的肢体模式，但存在指（趾）间蹼。
Dev Dyn. 2011 May;240(5):1142-50. doi: 10.1002/dvdy.22583. Epub 2011 Feb 28.
6
Quantification of endogenous retinoids.内源性类视黄醇的定量分析。
Methods Mol Biol. 2010;652:1-54. doi: 10.1007/978-1-60327-325-1_1.
7
Vitamin A facilitates enteric nervous system precursor migration by reducing Pten accumulation.维生素 A 通过减少 Pten 积累促进肠神经系统前体细胞迁移。
Development. 2010 Feb;137(4):631-40. doi: 10.1242/dev.040550.
8
The Rfx4 transcription factor modulates Shh signaling by regional control of ciliogenesis.Rfx4 转录因子通过对纤毛发生的区域控制调节 Shh 信号通路。
Sci Signal. 2009 Nov 3;2(95):ra70. doi: 10.1126/scisignal.2000602.
9
Retinoic acid from the meninges regulates cortical neuron generation.来自脑膜的视黄酸调节皮质神经元的生成。
Cell. 2009 Oct 30;139(3):597-609. doi: 10.1016/j.cell.2009.10.004.
10
The 11-cis-retinol dehydrogenase activity of RDH10 and its interaction with visual cycle proteins.RDH10的11-顺式视黄醇脱氢酶活性及其与视觉循环蛋白的相互作用。
Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5089-97. doi: 10.1167/iovs.09-3797. Epub 2009 May 20.

一种新型Rdh10突变体的形态学缺陷，该突变体的视黄酸生物合成和信号传导减少。

Morphological defects in a novel Rdh10 mutant that has reduced retinoic acid biosynthesis and signaling.

作者信息

Ashique Amir M, May Scott R, Kane Maureen A, Folias Alexandra E, Phamluong Khanhky, Choe Youngshik, Napoli Joseph L, Peterson Andrew S

出版信息

Genesis. 2012 May;50(5):415-23. doi: 10.1002/dvg.22002. Epub 2012 Jan 25.

DOI:10.1002/dvg.22002
PMID:22162152
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4118640/
Abstract

Retinoic acid (RA) signaling is necessary for proper patterning and morphogenesis during embryonic development. Tissue-specific RA signaling requires precise spatial and temporal synthesis of RA from retinal by retinaldehyde dehydrogenases (Raldh) and the conversion of retinol to retinal by retinol dehydrogenases (Rdh) of the short-chain dehydrogenase/reducatase gene family (SDR). The SDR, retinol dehydrogenase 10 (RDH10), is a major contributor to retinal biosynthesis during mid-gestation. We have identified a missense mutation in the Rdh10 gene (Rdh10(m366Asp) ) using an N-ethyl-N-nitrosourea-induced forward genetic screen that result in reduced RA levels and signaling during embryonic development. Rdh10(m366Asp) mutant embryos have unique phenotypes, such as edema, a massive midline facial cleft, and neurogenesis defects in the forebrain, that will allow the identification of novel RA functions.

摘要

视黄酸（RA）信号传导对于胚胎发育过程中的正确模式形成和形态发生是必需的。组织特异性RA信号传导需要视网膜醛脱氢酶（Raldh）从视黄醛精确地在空间和时间上合成RA，以及短链脱氢酶/还原酶基因家族（SDR）的视黄醇脱氢酶（Rdh）将视黄醇转化为视黄醛。SDR中的视黄醇脱氢酶10（RDH10）是妊娠中期视黄醛生物合成的主要贡献者。我们通过N-乙基-N-亚硝基脲诱导的正向遗传筛选，在Rdh10基因中鉴定出一个错义突变（Rdh10(m366Asp)），该突变导致胚胎发育过程中RA水平和信号传导降低。Rdh10(m366Asp)突变胚胎具有独特的表型，如水肿、巨大的中线面部裂隙和前脑神经发生缺陷，这将有助于鉴定新的RA功能。