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α1（IX）胶原蛋白基因在小鼠胚胎RNA和人类胎儿RNA中均产生两种不同的转录本。

The alpha 1 (IX) collagen gene gives rise to two different transcripts in both mouse embryonic and human fetal RNA.

作者信息

Muragaki Y, Nishimura I, Henney A, Ninomiya Y, Olsen B R

机构信息

Department of Anatomy and Cellular Biology, Harvard Medical School, Boston, MA 02115.

出版信息

Proc Natl Acad Sci U S A. 1990 Apr;87(7):2400-4. doi: 10.1073/pnas.87.7.2400.

DOI:10.1073/pnas.87.7.2400
PMID:1690886
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC53696/
Abstract

We have isolated and characterized portions of the alpha 1 (IX) collagen gene from mouse and human DNA. Nucleotide sequence analysis and comparison with the chicken gene suggest that the mammalian genes contain an alternative exon that is located within the intron between exons 6 and 7. Using oligonucleotide primers specific for exons 4, 8, and the alternative exon (exon 1*), we demonstrated by the polymerase chain reaction that embryonic mouse and fetal human RNAs contain two types of alpha 1(IX) collagen transcripts. One type of transcript does not contain the sequence encoded by exon 1*; the second type of transcript contains this exon. Both mouse and human alpha 1(IX) collagen genes give rise, therefore, to (at least) two mRNA transcripts.

摘要

我们从小鼠和人类DNA中分离并鉴定了α1（IX）胶原蛋白基因的部分序列。核苷酸序列分析以及与鸡基因的比较表明，哺乳动物基因包含一个位于外显子6和7之间内含子内的可变外显子。使用针对外显子4、8和可变外显子（外显子1*）的寡核苷酸引物，我们通过聚合酶链反应证明，胚胎小鼠和胎儿人类RNA包含两种类型的α1（IX）胶原蛋白转录本。一种转录本不包含由外显子1*编码的序列；第二种转录本包含该外显子。因此，小鼠和人类的α1（IX）胶原蛋白基因都产生（至少）两种mRNA转录本。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a46/53696/7f61cf970aee/pnas01032-0029-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a46/53696/873c2be7b032/pnas01032-0028-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a46/53696/7f61cf970aee/pnas01032-0029-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a46/53696/873c2be7b032/pnas01032-0028-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a46/53696/7f61cf970aee/pnas01032-0029-a.jpg

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Proc Natl Acad Sci U S A. 1990 Apr;87(7):2400-4. doi: 10.1073/pnas.87.7.2400.
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本文引用的文献

1
Immunohistochemical localization of collagen types I and II in the developing chick cornea and tibia by electron microscopy.通过电子显微镜对发育中的鸡角膜和胫骨中I型和II型胶原蛋白进行免疫组织化学定位。
Invest Ophthalmol Vis Sci. 1982 Mar;22(3):359-75.
2
Synthesis and characterization of cDNA encoding a cartilage-specific short collagen.编码一种软骨特异性短胶原蛋白的cDNA的合成与表征
Proc Natl Acad Sci U S A. 1984 May;81(10):3014-8. doi: 10.1073/pnas.81.10.3014.
3
Characterization of five members of the actin gene family in the sea urchin.
在两个患有多种骨骺发育不良的独特少发性骨骺型的家族中鉴定新型前α2（IX）胶原蛋白基因突变。
Am J Hum Genet. 1999 Jul;65(1):31-8. doi: 10.1086/302440.
4
Developmental regulation of mRNA species for types II, IX and XI collagens during mouse embryogenesis.小鼠胚胎发育过程中II型、IX型和XI型胶原蛋白mRNA种类的发育调控。
Biochem J. 1997 May 15;324 ( Pt 1)(Pt 1):209-16. doi: 10.1042/bj3240209.
5
Osteoarthritis associated with mild chondrodysplasia in transgenic mice expressing alpha 1(IX) collagen chains with a central deletion.在表达具有中央缺失的α1（IX）胶原链的转基因小鼠中，骨关节炎与轻度软骨发育异常相关。
Proc Natl Acad Sci U S A. 1993 Apr 1;90(7):2870-4. doi: 10.1073/pnas.90.7.2870.
6
Mice lacking alpha 1 (IX) collagen develop noninflammatory degenerative joint disease.缺乏α1（IX）胶原蛋白的小鼠会患上非炎性退行性关节疾病。
Proc Natl Acad Sci U S A. 1994 May 24;91(11):5070-4. doi: 10.1073/pnas.91.11.5070.
7
Human COL2A1-directed SV40 T antigen expression in transgenic and chimeric mice results in abnormal skeletal development.在转基因和嵌合小鼠中，人COL2A1定向的SV40 T抗原表达导致骨骼发育异常。
J Cell Biol. 1995 Jan;128(1-2):223-37. doi: 10.1083/jcb.128.1.223.
8
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6
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7
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