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在两名早发性和晚发性鸟氨酸氨甲酰基转移酶（OCT）缺乏症患者中鉴定出OCT基因的两种新的异常剪接。

Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency.

作者信息

Matsuura T, Hoshide R, Komaki S, Kiwaki K, Endo F, Nakamura S, Jitosho T, Matsuda I

机构信息

Department of Pediatrics, Kumamoto University School of Medicine, Japan.

出版信息

J Inherit Metab Dis. 1995;18(3):273-82. doi: 10.1007/BF00710415.

DOI:10.1007/BF00710415
PMID:7474892
Abstract

Ornithine carbamoyltransferase (OCT) is a liver-specific enzyme located in the mitochondrial matrix. OCT deficiency is an X-linked disease with a heterogeneous phenotype, even in affected males. We studied two male patients (K.M., K.G.) with early and late onset, respectively. OCT activity was zero in the autopsied liver of patient K.M. and was 6% of control in the biopsied liver of K.G. Sequencing of OCT cDNAs revealed exon 5 skipping in K.M., resulting from a T-to-C transition of the initial dinucleotide of the 5' splicing donor site of intron 5, and a G-to-T transversion at position +45 in exon 9 (L304F) in K.G., providing three OCT mRNAs of different lengths: a normally spliced transcript, 23 bp insertion of intron 8 and the first 50bp missing within exon 9. Exon 5 skipping and two other aberrant splicings produced stop codons early downstream in mature OCT mRNAs. Expression study of a missense allele, L304F, transfected to cultured Cos 1 cells revealed a 34.4% value of the control. The difference of OCT activities between the patient liver and transfected cells (6% vs. 34%) can be explained by this splicing abnormality.

摘要

鸟氨酸氨甲酰基转移酶（OCT）是一种位于线粒体基质中的肝脏特异性酶。OCT缺乏症是一种X连锁疾病，即使在受影响的男性中也具有异质性表型。我们分别研究了两名发病早和发病晚的男性患者（K.M.和K.G.）。在患者K.M.的尸检肝脏中OCT活性为零，而在K.G.的活检肝脏中为对照的6%。OCT cDNA测序显示，K.M.中存在外显子5跳跃，这是由内含子5的5'剪接供体位点起始二核苷酸的T到C转换引起的；在K.G.中，外显子9的第45位发生了G到T的颠换（L304F），产生了三种不同长度的OCT mRNA：一种正常剪接的转录本、内含子8的23 bp插入以及外显子9内缺失的前50 bp。外显子5跳跃和其他两种异常剪接在成熟OCT mRNA的下游早期产生了终止密码子。将错义等位基因L304F转染到培养的Cos 1细胞中的表达研究显示其活性为对照的34.4%。患者肝脏和转染细胞之间OCT活性的差异（6%对34%）可以用这种剪接异常来解释。

相似文献

1
Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency.在两名早发性和晚发性鸟氨酸氨甲酰基转移酶（OCT）缺乏症患者中鉴定出OCT基因的两种新的异常剪接。
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2
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Am J Hum Genet. 1991 Jun;48(6):1105-14.
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Hum Genet. 1993 May;91(4):321-5. doi: 10.1007/BF00217350.

引用本文的文献

1
Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review.鸟氨酸转氨甲酰酶缺乏症的致病变体：日本全国性研究及文献综述
Front Genet. 2022 Oct 11;13:952467. doi: 10.3389/fgene.2022.952467. eCollection 2022.
2
A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency.在两名患有二氢嘧啶脱氢酶缺乏症的不相关荷兰患者中，一个不变剪接供体位点的点突变导致外显子跳跃。
J Inherit Metab Dis. 1996;19(5):645-54. doi: 10.1007/BF01799841.

本文引用的文献

1
The skipping of constitutive exons in vivo induced by nonsense mutations.无义突变在体内诱导组成型外显子跳跃。
Science. 1993 Jan 29;259(5095):680-3. doi: 10.1126/science.8430317.
2
Four novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns [corrected].5例日本男性新生儿或迟发性鸟氨酸转氨甲酰酶缺乏症患者中的4种新基因突变：聚合酶链反应-单链构象多态性在外显子及相邻内含子中的应用[已修正]
Hum Genet. 1993 Aug;92(1):49-56. doi: 10.1007/BF00216144.
3
Deficiency of the E1 beta subunit in the branched-chain alpha-keto acid dehydrogenase complex due to a single base substitution of the intron 5, resulting in two alternatively spliced mRNAs in a patient with maple syrup urine disease.
由于内含子5的单个碱基替换，导致支链α-酮酸脱氢酶复合体中的E1β亚基缺乏，在一名枫糖尿症患者中产生了两种选择性剪接的mRNA。
Biochim Biophys Acta. 1994 Feb 22;1225(3):317-25. doi: 10.1016/0925-4439(94)90013-2.
4
Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes.四种突变型人鸟氨酸转氨甲酰酶基因在培养的Cos 1细胞中的表达与临床表型相关。
Hum Genet. 1994 Feb;93(2):129-34. doi: 10.1007/BF00210596.
5
Biochemical heterogeneity of ornithine carbamoyl transferase(OCT) in patients with OCT deficiency.鸟氨酸氨甲酰基转移酶（OCT）缺乏症患者中鸟氨酸氨甲酰基转移酶（OCT）的生化异质性。
Jinrui Idengaku Zasshi. 1984 Sep;29(3):327-33. doi: 10.1007/BF01871248.
6
Expression and regulation of Escherichia coli lacZ gene fusions in mammalian cells.大肠杆菌lacZ基因融合体在哺乳动物细胞中的表达与调控
J Mol Appl Genet. 1983;2(1):101-9.
7
Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.人腺嘌呤磷酸核糖转移酶。核苷酸水平上等位基因突变作为该酶完全缺乏的原因的鉴定。
J Clin Invest. 1987 Nov;80(5):1409-15. doi: 10.1172/JCI113219.
8
RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression.不同类真核生物的RNA剪接连接：序列统计及其在基因表达中的功能意义
Nucleic Acids Res. 1987 Sep 11;15(17):7155-74. doi: 10.1093/nar/15.17.7155.
9
GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria.剪接供体位点的GT到AT转换导致苯丙酮尿症中前一个外显子的跳跃。
Nucleic Acids Res. 1987 Jul 24;15(14):5613-28. doi: 10.1093/nar/15.14.5613.
10
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.三名无关的鸟氨酸转氨甲酰酶缺乏症患者同一精氨酸密码子点突变的特征分析
J Clin Invest. 1988 Oct;82(4):1353-8. doi: 10.1172/JCI113738.