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人源和小鼠源II型前胶原（COL2A1）基因中53个内含子的大小以及超过100个用于结合常见转录因子的内含子序列的保守性。

Conservation of the sizes of 53 introns and over 100 intronic sequences for the binding of common transcription factors in the human and mouse genes for type II procollagen (COL2A1).

作者信息

Ala-Kokko L, Kvist A P, Metsäranta M, Kivirikko K I, de Crombrugghe B, Prockop D J, Vuorio E

机构信息

Collagen Research Unit, University of Oulu, Finland.

出版信息

Biochem J. 1995 Jun 15;308 ( Pt 3)(Pt 3):923-9. doi: 10.1042/bj3080923.

DOI:10.1042/bj3080923
PMID:8948452
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1136812/
Abstract

Over 11,000 bp of previously undefined sequences of the human COL2A1 gene were defined. The results made it possible to compare the intron structures of a highly complex gene from man and mouse. Surprisingly, the sizes of the 53 introns of the two genes were highly conserved with a mean difference of 13%. After alignment of the sequences, 69% of the intron sequences were identical. The introns contained consensus sequences for the binding of over 100 different transcription factors that were conserved in the introns of the two genes. The first intron of the gene contained 80 conserved consensus sequences and the remaining 52 introns of the gene contained 106 conserved sequences for the binding of transcription factors. The 5'-end of intron 2 in both genes had a potential for forming a stem loop in RNA transcripts.

摘要

人类COL2A1基因超过11000 bp的先前未定义序列得到了明确。这些结果使得比较人类和小鼠高度复杂基因的内含子结构成为可能。令人惊讶的是，两个基因的53个内含子大小高度保守，平均差异为13%。序列比对后，69%的内含子序列相同。内含子包含100多种不同转录因子结合的共有序列，这些序列在两个基因的内含子中是保守的。该基因的第一个内含子包含80个保守的共有序列，该基因其余52个内含子包含106个转录因子结合的保守序列。两个基因中内含子2的5'端在RNA转录本中具有形成茎环的潜力。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71ff/1136812/e90fd17f4e51/biochemj00061-0225-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71ff/1136812/e90fd17f4e51/biochemj00061-0225-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71ff/1136812/e90fd17f4e51/biochemj00061-0225-a.jpg

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本文引用的文献

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Sequence variations in the collagen IX and XI genes are associated with degenerative lumbar spinal stenosis.胶原蛋白IX和XI基因的序列变异与退行性腰椎管狭窄症相关。
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A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis.小鼠Col2a1基因中的一个错义突变会导致先天性脊柱骨骺发育不良、听力丧失和视网膜劈裂。
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