基因Bmp5,即骨形态发生蛋白5,属于转化生长因子β(TGF-β)超家族的一员,是一类重要的信号分子,参与多种生物学过程,包括细胞分化、发育、组织修复和疾病发生。Bmp5通过与其受体结合,激活下游信号通路,从而调控基因表达和细胞功能。Bmp5在骨骼发育、心血管系统形成和皮肤修复等方面发挥重要作用,其功能异常与多种疾病的发生发展密切相关。
Bmp5在哺乳动物胚胎发育过程中发挥重要作用,特别是在耳郭发育过程中。研究发现,Bmp5突变会导致小鼠出现耳郭畸形,如小耳症。为了研究Bmp5突变对耳郭发育的影响,研究者构建了Bmp5短耳小鼠模型,并分析了不同发育阶段的耳郭组织中的mRNA、miRNA、lncRNA和circRNA表达变化。研究发现,Bmp5突变会导致耳郭组织中mRNA、miRNA、lncRNA和circRNA表达谱的改变,进而影响相关信号通路和基因表达,最终导致耳郭畸形。这些研究结果为理解Bmp5在耳郭发育过程中的作用机制提供了重要线索[1,2,3,4,6]。
此外,Bmp5在肿瘤发生发展中发挥重要作用。研究发现,Bmp5基因在结直肠癌组织中表达上调,且与肿瘤的分期和预后相关。进一步研究发现,Bmp5基因突变与脂肪性状相关,可能作为脂肪性状的遗传标记[5,7,8]。
综上所述,Bmp5是一种重要的骨形态发生蛋白,参与调控多种生物学过程,包括耳郭发育、肿瘤发生发展和脂肪性状。Bmp5突变会导致相关生物学过程异常,进而导致疾病的发生发展。深入研究Bmp5的功能和调控机制,有助于揭示相关疾病的发病机制,为疾病的治疗和预防提供新的思路和策略。
参考文献:
1. Liu, Wei, Lin, Lin, Sun, Yiwei, Yang, Qinghua, Jiang, Haiyue. 2022. Bmp5 Mutation Alters mRNA Expression During External Ear Development. In The Journal of craniofacial surgery, 34, 790-796. doi:10.1097/SCS.0000000000009025. https://pubmed.ncbi.nlm.nih.gov/36166492/
2. Liu, Wei, Lin, Lin, Jin, Shengyang, Yang, Qinghua, Jiang, Haiyue. 2022. Bmp5 Mutation Alters miRNA Expression During Embryonic External Ear Development. In The Journal of craniofacial surgery, 33, 2692-2697. doi:10.1097/SCS.0000000000008655. https://pubmed.ncbi.nlm.nih.gov/35765140/
3. Liu, Wei, Lin, Lin, Yang, Qinghua, Jin, Shengyang, Jiang, Haiyue. 2022. Changes in the Transcriptome-Associated Co-Expression Profile of Embryonic External Ear Development After the BMP5 Gene Mutation. In The Journal of craniofacial surgery, 34, 797-803. doi:10.1097/SCS.0000000000009031. https://pubmed.ncbi.nlm.nih.gov/36192835/
4. Liu, Wei, Jin, Shengyang, Lin, Lin, Yang, Qinghua, Jiang, Haiyue. 2023. Changes in the Long Noncoding RNA Expression Profile in the Development of the Embryonic External Ear After BMP5 Gene Mutation. In The Journal of craniofacial surgery, 34, 1605-1609. doi:10.1097/SCS.0000000000009200. https://pubmed.ncbi.nlm.nih.gov/36959163/
5. Su, Ying, Tian, Xuecong, Gao, Rui, Li, Hongtao, Lv, Xiaoyi. 2022. Colon cancer diagnosis and staging classification based on machine learning and bioinformatics analysis. In Computers in biology and medicine, 145, 105409. doi:10.1016/j.compbiomed.2022.105409. https://pubmed.ncbi.nlm.nih.gov/35339846/
6. Liu, Wei, Lin, Lin, Wang, Qiushi, Yang, Qinghua, Jiang, Haiyue. 2022. Bmp5 Mutation Alters circRNA Expression During Embryonic External Ear Development. In The Journal of craniofacial surgery, 33, 1934-1938. doi:10.1097/SCS.0000000000008424. https://pubmed.ncbi.nlm.nih.gov/35765132/
7. Wilkins, James M, Southam, Lorraine, Mustafa, Zehra, Chapman, Kay, Loughlin, John. 2009. Association of a functional microsatellite within intron 1 of the BMP5 gene with susceptibility to osteoarthritis. In BMC medical genetics, 10, 141. doi:10.1186/1471-2350-10-141. https://pubmed.ncbi.nlm.nih.gov/20021689/
8. Shao, G C, Luo, L F, Jiang, S W, Xiong, Y Z, Li, F E. 2010. A C/T mutation in microRNA target sites in BMP5 gene is potentially associated with fatness in pigs. In Meat science, 87, 299-303. doi:10.1016/j.meatsci.2010.09.013. https://pubmed.ncbi.nlm.nih.gov/21093991/