BMP2基因远程调控元件的功能分析

doi:10.16288/j.yczz.22-304

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Hereditas(Beijing) ›› 2022, Vol. 44 ›› Issue (12): 1141-1147.doi: 10.16288/j.yczz.22-304

• Research Report • Previous Articles Next Articles

Functional analysis of the long-range regulatory element of BMP2 gene

Xingqi Wan¹(), Wanzhen Wei¹, Shengliang Guo¹, Yixiao Cui², Xueying Jing¹, Lujie Huang¹(), Jie Ma¹()

1. Department of Electron Microscope, School of Basic Medical Sciences, Xi’an Jiaotong University Health Science Center, Xi’an 710061, China
2. Department of Stomatology, Xi’an Medical University, Xi’an 710061, China

Received:2022-09-18 Revised:2022-10-21 Online:2022-12-20 Published:2022-10-31
Contact: Huang Lujie,Ma Jie E-mail:1061606776@qq.com;huanglujie307@163.com;majie@xjtu.edu.cn
Supported by:
the Natural Science Basic Research Plan in Shaanxi Province of China(2022JM-440);the National Natural Science Foundation of China(31371298)

Abstract

Abstract:

Recently, several pedigree-based studies have shown that abnormal replication of an enhancer element regulatory region in the downstream of the bone morphogenetic protein 2 (BMP2) gene is the cause of brachydactyly type A2 (BDA2). However, the exact molecular function of this regulatory region is unclear, and even conflicting results have emerged. In this study, based on bioinformatics analysis, we amplified target fragments of different lengths in this regulatory region by PCR technology, including a highly conserved 2.1 kb core sequence and 3 fragments that can completely cover the core 2.1 kb fragment. Then, the gene recombination vectors were constructed, and the biological function of these fragments was analyzed by the dual-luciferase reporter gene technology system. We found that the highly conserved 2.1 kb fragment did not have enhancer activity, while all of three truncated fragments showed strong enhancer activity. The results suggest that the expression regulation mode of the BMP2 gene is very complex. For the downstream regulatory region, selecting fragments of different lengths may have different effects on the regulation of BMP2 expression, which may due to the fragments with different lengths carrying different regulatory elements in the number of types. In summary, this study revealed the complexity of BMP2 gene regulatory elements, and provided new clues and directions for the subsequent in-depth exploration of the molecular pathogenic mechanism of BDA2.

Key words: BMP2, enhancer, regulation, replication, brachydactyly type A2

Xingqi Wan, Wanzhen Wei, Shengliang Guo, Yixiao Cui, Xueying Jing, Lujie Huang, Jie Ma. Functional analysis of the long-range regulatory element of BMP2 gene[J]. Hereditas(Beijing), 2022, 44(12): 1141-1147.

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References 27

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Functional analysis of the long-range regulatory element of BMP2 gene

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