SP7: from Bone Development to Skeletal Disease.

IF 4.2 2区医学 Q1 ENDOCRINOLOGY & METABOLISM

Current Osteoporosis Reports Pub Date : 2023-04-01 Epub Date: 2023-03-07 DOI:10.1007/s11914-023-00778-7

Jialiang S Wang, Nicha Tokavanich, Marc N Wein

{"title":"SP7: from Bone Development to Skeletal Disease.","authors":"Jialiang S Wang, Nicha Tokavanich, Marc N Wein","doi":"10.1007/s11914-023-00778-7","DOIUrl":null,"url":null,"abstract":"Purpose of review: The purpose of this review is to summarize the different roles of the transcription factor SP7 in regulating bone formation and remodeling, discuss current studies in investigating the causal relationship between SP7 mutations and human skeletal disease, and highlight potential therapeutic treatments that targeting SP7 and the gene networks that it controls.Recent findings: Cell-type and stage-specific functions of SP7 have been identified during bone formation and remodeling. Normal bone development regulated by SP7 is strongly associated with human bone health. Dysfunction of SP7 results in common or rare skeletal diseases, including osteoporosis and osteogenesis imperfecta with different inheritance patterns. SP7-associated signaling pathways, SP7-dependent target genes, and epigenetic regulations of SP7 serve as new therapeutic targets in the treatment of skeletal disorders. This review addresses the importance of SP7-regulated bone development in studying bone health and skeletal disease. Recent advances in whole genome and exome sequencing, GWAS, multi-omics, and CRISPR-mediated activation and inhibition have provided the approaches to investigate the gene-regulatory networks controlled by SP7 in bone and the therapeutic targets to treat skeletal disease.","PeriodicalId":11080,"journal":{"name":"Current Osteoporosis Reports","volume":"21 2","pages":"241-252"},"PeriodicalIF":4.2000,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10758296/pdf/","citationCount":"4","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Osteoporosis Reports","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s11914-023-00778-7","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/3/7 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}

引用次数: 4

Abstract

Purpose of review: The purpose of this review is to summarize the different roles of the transcription factor SP7 in regulating bone formation and remodeling, discuss current studies in investigating the causal relationship between SP7 mutations and human skeletal disease, and highlight potential therapeutic treatments that targeting SP7 and the gene networks that it controls.

Recent findings: Cell-type and stage-specific functions of SP7 have been identified during bone formation and remodeling. Normal bone development regulated by SP7 is strongly associated with human bone health. Dysfunction of SP7 results in common or rare skeletal diseases, including osteoporosis and osteogenesis imperfecta with different inheritance patterns. SP7-associated signaling pathways, SP7-dependent target genes, and epigenetic regulations of SP7 serve as new therapeutic targets in the treatment of skeletal disorders. This review addresses the importance of SP7-regulated bone development in studying bone health and skeletal disease. Recent advances in whole genome and exome sequencing, GWAS, multi-omics, and CRISPR-mediated activation and inhibition have provided the approaches to investigate the gene-regulatory networks controlled by SP7 in bone and the therapeutic targets to treat skeletal disease.

Abstract Image

查看原文本刊更多论文

SP7：从骨骼发育到骨骼疾病。

综述的目的：本综述旨在总结转录因子SP7在调节骨形成和重塑过程中的不同作用，讨论目前在调查SP7突变与人类骨骼疾病之间因果关系方面的研究，并重点介绍针对SP7及其控制的基因网络的潜在治疗方法：最近的研究结果：SP7在骨形成和重塑过程中的细胞类型和阶段特异性功能已被确定。SP7调控的正常骨骼发育与人类骨骼健康密切相关。SP7功能失调会导致常见或罕见的骨骼疾病，包括骨质疏松症和成骨不全症，且具有不同的遗传模式。与 SP7 相关的信号通路、依赖 SP7 的靶基因以及 SP7 的表观遗传调控可作为治疗骨骼疾病的新靶点。本综述探讨了SP7调控的骨骼发育对研究骨骼健康和骨骼疾病的重要性。全基因组和外显子组测序、全基因组和外显子组测序、多组学、CRISPR介导的激活和抑制等方面的最新进展为研究骨骼中受SP7调控的基因调控网络和治疗骨骼疾病的靶点提供了方法。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Current Osteoporosis Reports Medicine-Endocrinology, Diabetes and Metabolism

CiteScore

8.80

自引率

2.30%

发文量

期刊介绍： This journal intends to provide clear, insightful, balanced contributions by international experts that review the most important, recently published clinical findings related to the diagnosis, treatment, management, and prevention of osteoporosis. We accomplish this aim by appointing international authorities to serve as Section Editors in key subject areas, such as current and future therapeutics, epidemiology and pathophysiology, and evaluation and management. Section Editors, in turn, select topics for which leading experts contribute comprehensive review articles that emphasize new developments and recently published papers of major importance, highlighted by annotated reference lists. An international Editorial Board reviews the annual table of contents, suggests articles of special interest to their country/region, and ensures that topics are current and include emerging research. Commentaries from well-known figures in the field are also provided.