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Recurrence of osteogenesis imperfecta because of paternal mosaicism: Gly862-->Ser substitution in a type I collagen gene (COL1A1).

作者信息

Namikawa C, Suzumori K, Fukushima Y, Sasaki M, Hata A

机构信息

Department of Biochemistry, Nagoya City University Medical School, Japan.

出版信息

Hum Genet. 1995 Jun;95(6):666-70. doi: 10.1007/BF00209484.

DOI:10.1007/BF00209484
PMID:7789952
Abstract

We determined that two siblings with type III osteogenesis imperfecta (OI) had the same single base substitution that converted the codon for glycine (Gly) 862 to a codon for serine (Ser) in exon 44 of the alpha 1 chain of the type I (alpha 1(I)) collagen gene (COL1A1). The mutation was also detected in various paternal tissues; the mutant allele accounted for approximately 11% of the COL1A1 alleles in blood, 24% of those in fibroblasts, and 43% of those in sperm determined by allele-specific colony hybridization using amplified genomic sequences. These findings demonstrate that germ-line mosaicism in the phenotypically normal father is responsible for the recurrence. There is a cluster of serine substitutions for Gly (Gly832, Gly844 and Gly901) which is associated with nonlethal phenotypes and which is located between two lethal clusters. In the cases studied here, a Gly862-->Ser mutation was identified that is located inside the nonlethal cluster.

摘要

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2
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本文引用的文献

1
Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology.两例IV型成骨不全症（OI）中I型胶原蛋白丝氨酸被甘氨酸取代的情况。OI病理生理学区域模型的更多证据。
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Nucleotide sequences of complementary deoxyribonucleic acids for the pro alpha 1 chain of human type I procollagen. Statistical evaluation of structures that are conserved during evolution.人I型前胶原原α1链互补脱氧核糖核酸的核苷酸序列。对进化过程中保守结构的统计学评估。
Biochemistry. 1983 Oct 25;22(22):5213-23. doi: 10.1021/bi00291a023.
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无症状性成骨不全的亲代嵌合体与一个新的剪接位点突变相关。 （原文句末不完整，推测补充完整后为“Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A1.”之类，可根据实际情况调整译文）
Clin Case Rep. 2016 Aug 31;4(10):972-978. doi: 10.1002/ccr3.658. eCollection 2016 Oct.
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A perspective on the evolution of germ-cell development and germinal mosaics of deleterious mutations.生殖细胞发育的演变及有害突变的生殖镶嵌现象之透视
Genetica. 2015 Oct;143(5):563-9. doi: 10.1007/s10709-015-9854-1. Epub 2015 Jun 26.
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Genetic mosaics and the germ line lineage.遗传嵌合体与生殖系谱系。
Genes (Basel). 2015 Apr 17;6(2):216-37. doi: 10.3390/genes6020216.
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Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix.成骨不全症（OI）患者中的两种新型COL1A1突变影响I型胶原三螺旋的稳定性。
J Appl Genet. 2008;49(3):283-95. doi: 10.1007/BF03195625.
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MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.散发性雷特综合征病例中的MECP2突变几乎完全源自父方。
Am J Hum Genet. 2001 May;68(5):1093-101. doi: 10.1086/320109. Epub 2001 Apr 17.
Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.
围生期致死性成骨不全（II型OI）：一种生化性质异质性疾病，通常由I型胶原蛋白基因的新发突变引起。
Am J Hum Genet. 1988 Feb;42(2):237-48.
4
Review and hypotheses: somatic mosaicism: observations related to clinical genetics.综述与假说：体细胞镶嵌现象：与临床遗传学相关的观察
Am J Hum Genet. 1988 Oct;43(4):355-63.
5
Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis.IV型成骨不全症。通过RNA/RNA杂交分析检测一个α1（I）胶原蛋白等位基因（COL1A1）中的点突变。
J Biol Chem. 1989 Jul 15;264(20):11893-900.
6
Substitution of serine for alpha 1(I)-glycine 844 in a severe variant of osteogenesis imperfecta minimally destabilizes the triple helix of type I procollagen. The effects of glycine substitutions on thermal stability are either position of amino acid specific.在成骨不全的一种严重变体中，将丝氨酸替代α1（I）-甘氨酸844对I型前胶原三螺旋的稳定性影响最小。甘氨酸替代对热稳定性的影响因氨基酸位置而异。
J Biol Chem. 1989 Nov 25;264(33):19694-9.
7
Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-alpha 1(I) collagen gene.携带工程化突变型α1（I）前胶原基因的转基因小鼠中的围产期致死性成骨不全症
Nature. 1988 Mar 10;332(6160):131-6. doi: 10.1038/332131a0.
8
Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction.采用酸性硫氰酸胍-苯酚-氯仿萃取法一步分离RNA的方法。
Anal Biochem. 1987 Apr;162(1):156-9. doi: 10.1006/abio.1987.9999.
9
Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.一个核心家庭中出现的成骨不全症的可变表达，是由一位家长的I型胶原蛋白α1（I）基因（COL1A1）中的致死性点突变的体细胞镶嵌现象所解释的。
Am J Hum Genet. 1990 Jun;46(6):1034-40.
10
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).由于人类I型胶原蛋白基因（COL1A1）中的显性突变导致父母嵌合体而引起的致死性成骨不全复发。
Am J Hum Genet. 1990 Mar;46(3):591-601.