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是一种单等位基因表达的长基因间非编码RNA,位于牛群簇中。

is a monoallelically expressed long intergenic noncoding RNA located in the cattle cluster.

作者信息

Zhang Cui, Xu Da, Chen Weina, Li Junliang, Gao Qinghua, Li Shijie

机构信息

Department of Biochemistry and Molecular Biology, College of Life Sciences, Hebei Agriculture University, Baoding 071001, People's Republic of China.

出版信息

J Genet. 2019 Mar;98.

PMID:30945679
Abstract

Long noncoding RNAs (lncRNAs) are important regulators of biological processes, and regulate genomic imprinting in and/or to induce monoallelic expression with parent-origin-specific pattern. domain is one of the largest imprinted clusters in mammals, and maternally expressed noncoding RNAs of this region is related to the pluripotency of the embryonic stem cells. Previously, we sequenced the cDNA of two maternally expressed noncoding RNAs, and , and mapped a lncRNA () between the two genes in the cattle domain on chromosome 21. In this study, we identified , a novel long intergenic noncoding RNA (lincRNA), which was also located between and . We identified four variants of LINC24065 (, , and ) that were a result of alternative splicing from 18 exons. and showed tissue-specific expression patterns in adultbovine tissues, and and were detected in all eight analysed tissues (heart, liver, spleen, lung, kidney, skeletal muscle, adipose and brain). Using single-nucleotide polymorphism (SNP)-based method, was identified to have monoallelic expression in adult tissues, suggesting that it is imprinted in cows. These results provide a foundation for further investigation about whether plays a role in regulating imprinting of the domain.

摘要

长链非编码RNA(lncRNAs)是生物过程的重要调节因子,在……中调节基因组印记和/或诱导具有亲本来源特异性模式的单等位基因表达。……结构域是哺乳动物中最大的印记簇之一,该区域母源表达的非编码RNA与胚胎干细胞的多能性有关。此前,我们对两个母源表达的非编码RNA……和……的cDNA进行了测序,并在21号染色体牛……结构域的两个基因之间定位了一个lncRNA(……)。在本研究中,我们鉴定了一种新型的长链基因间非编码RNA(lincRNA)……,它也位于……和……之间。我们鉴定出LINC24065的四个变体(……、……、……和……),它们是由18个外显子的可变剪接产生的。……和……在成年牛组织中表现出组织特异性表达模式,并且在所有八个分析组织(心脏、肝脏、脾脏、肺、肾脏、骨骼肌、脂肪和大脑)中都检测到了……和……。使用基于单核苷酸多态性(SNP)的方法,确定……在成年组织中具有单等位基因表达,表明它在奶牛中是印记的。这些结果为进一步研究……是否在调节……结构域的印记中发挥作用提供了基础。

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Response to Growth Hormone Treatment in a Patient with Insulin-Like Growth Factor 1 Receptor Deletion.胰岛素样生长因子1受体缺失患者对生长激素治疗的反应
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Genetic Mutations, Birth Lengths, Weights and Head Circumferences of Children with IGF-I Receptor Defects. Comparison with other Congenital Defects in the GH/IGF-I axis.
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Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.IGF1R单倍剂量不足的遗传和功能诊断扩展
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Heterozygous nonsense mutations near the C-terminal region of IGF1R in two patients with small-for-gestational-age-related short stature.两名患有小于胎龄儿相关身材矮小的患者中,胰岛素样生长因子1受体(IGF1R)C末端区域附近存在杂合性无义突变。
Clin Endocrinol (Oxf). 2015 Dec;83(6):834-41. doi: 10.1111/cen.12791. Epub 2015 May 11.
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Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment.小头畸形且伴有产前和产后生长发育障碍患者中的三种新型胰岛素样生长因子1受体(IGF1R)突变
Clin Endocrinol (Oxf). 2015 May;82(5):704-11. doi: 10.1111/cen.12555. Epub 2014 Aug 7.
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Association of insulin growth factor-1 receptor gene polymorphisms with genetic susceptibility to idiopathic short stature.胰岛素样生长因子-1受体基因多态性与特发性身材矮小遗传易感性的关联
Genet Mol Res. 2013 Oct 18;12(4):4768-79. doi: 10.4238/2013.October.18.14.
7
Familial short stature is associated with a novel dominant-negative heterozygous insulin-like growth factor 1 receptor (IGF1R) mutation.家族性身材矮小与一种新的显性负性杂合胰岛素样生长因子1受体(IGF1R)突变相关。
Clin Endocrinol (Oxf). 2014 Aug;81(2):312-4. doi: 10.1111/cen.12317. Epub 2013 Sep 30.
8
Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation.一位携带复合杂合性着丝粒蛋白基因突变和杂合性 IGF1 受体基因突变患者的临床和功能特征。
PLoS One. 2012;7(5):e38220. doi: 10.1371/journal.pone.0038220. Epub 2012 May 31.
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IGF1R mutations as cause of SGA.IGF1R 突变导致 SGA。
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Optimal use of growth hormone therapy for maximizing adult height in children born small for gestational age.优化生长激素疗法以最大化小于胎龄儿成年后的身高。
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