神经嵴发育调控及颅面部遗传基础研究进展

doi:10.16288/j.yczz.22-221

遗传 ›› 2022, Vol. 44 ›› Issue (12): 1089-1102.doi: 10.16288/j.yczz.22-221

神经嵴发育调控及颅面部遗传基础研究进展

毛轲¹(), 孟子秋², 张永彪^2,³()

1.北京航空航天大学生物与医学工程学院，北京 100191
2.北京航空航天大学医学科学与工程学院，北京 100191
3.工信部大数据精准医疗重点实验室，北京 100191

收稿日期:2022-06-28 修回日期:2022-08-29 出版日期:2022-12-20 发布日期:2022-09-26
通讯作者: 张永彪 E-mail:maocyy@126.com;zhangyongbiao@buaa.edu.cn
作者简介:毛轲，在读博士研究生，研究方向：生物与医学工程。E-mail: maocyy@126.com
基金资助:
国家自然科学基金项目(31671312);国家自然科学基金项目(82171844);国家自然科学基金项目(81970898)

Progress on the regulation of neural crest and the genetics in craniofacial development

Ke Mao¹(), Ziqiu Meng², Yongbiao Zhang^2,³()

1. School of Biological Science and Medical Engineering, Beihang University, Beijing 100191, China
2. School of Engineering Medicine, Beihang University, Beijing 100191, China
3. Key Laboratory of Big Data-Based Precision Medicine ( Ministry of Industry and Information Technology), Beihang University, Beijing 100191, China

Received:2022-06-28 Revised:2022-08-29 Online:2022-12-20 Published:2022-09-26
Contact: Zhang Yongbiao E-mail:maocyy@126.com;zhangyongbiao@buaa.edu.cn
Supported by:
the National Natural Science Foundation of China(31671312);the National Natural Science Foundation of China(82171844);the National Natural Science Foundation of China(81970898)

摘要/Abstract

摘要：

颅面部赋予脊椎动物无与伦比的进化优势，其由颅神经嵴细胞发育而来的骨、软骨、神经、肌肉等组织组成，使脊椎动物具备了复杂的神经和感官系统。神经嵴细胞是脊椎动物特有的具备迁移性、多能性的细胞类群，它们在增殖、迁移、分化过程中受到多个基因网络的时序调控，从而参与复杂颅面部的形成。同时，颅面部又是一组高度可遗传的表型组合，并具有两个特征：在亲缘后代中的可遗传性及在不同个体间的高度可变性，这两个特征分别提示了颅神经嵴细胞发育调控网络的精准性和可塑性。调控网络内基因适度突变会改变颅神经嵴细胞的增殖和分化从而产生表型可塑性，而有害的遗传突变则将导致畸形产生。本文梳理了对颅面部发育起决定作用的神经嵴细胞的发育过程及基因调控网络，在遗传层面总结了已知的颅面部表型多样性的决定基础和颅面畸形的致病机制，以期为了解颅面部发育过程以及为颅面疾病的防控提供全面认知。

关键词: 颅面发育, 神经嵴细胞, 基因调控网络, 遗传变异

Abstract:

The craniofacial features endow vertebrates with unparalleled evolutionary advantages. The craniofacial is composed of bone, cartilage, nerves, and connective tissues mainly developed from cranial neural crest cells (cNCCs). These tissues form complex organs which enable vertebrates to have powerful neural and sensory systems. NCCs are groups of migratory and pluripotent cells that are specific to vertebrates. The specification, premigration and migration, proliferation, and fate determination of the NCCs are precisely and sequentially controlled by gene regulatory networks, to ensure the ordered and accurate development of the craniofacial region. The craniofacial region represents a combined set of highly heritable phenotypes, which could be illustrated by the inherited facial features between relatives but perceptible differences among non-relatives. Such phenomena are termed heredity and variation, which are in accordance with the precision and plasticity of cNCCs gene regulatory network, respectively. Evidence has shown that genetic variations within the regulatory network alter the proliferation and differentiation of NCCs within a tolerable range, while deleterious mutations will lead to craniofacial malformations. In this review, we first summarize the development procedure of NCCs and their gene regulatory networks and then provide an overview on the genetic basis of the facial morphology and malformations. This review will benefit the understanding of craniofacial development and the prevention of craniofacial diseases.

Key words: craniofacial development, cranial neural crest cells, gene regulatory network, genetic variation

毛轲, 孟子秋, 张永彪. 神经嵴发育调控及颅面部遗传基础研究进展[J]. 遗传, 2022, 44(12): 1089-1102.

Ke Mao, Ziqiu Meng, Yongbiao Zhang. Progress on the regulation of neural crest and the genetics in craniofacial development[J]. Hereditas(Beijing), 2022, 44(12): 1089-1102.

图/表 4

图1

图2

表1

与颅面特征关联的基因"

人群	数量	关联基因	关联的面部器官	参考文献
欧洲	5388	PRDM6、PAX3、TP63、C5orf50、COL17A1	鼻、眼	[59]
欧洲	2185	PAX3	鼻	[60]
欧洲	3118	PAX9/MIPOL1、MAFB、ALX3、HDAC8、PAX1、RNASE3/ ZNF219	颅宽、鼻、眼	[61]
美洲	6275	DCHS2、SUPT3H/RUNX2 、GLI3、PAX1、EDAR、PAX3	鼻、下巴	[62]
欧亚	694	UBASH3B、COL23A1、PCDH7、LOC730100、BMP2、LINC02008	眼、嘴、鼻、脸颊	[63]
东亚	5643	OSR1-WDR35、HOXD1-MTX2、WDR27 、SOX9 、DHX35	脸部角度、眼、鼻	[64]
欧洲	10115	CASZ1、ARHGEF19、TBX15、RPE65、LRRTM4、PAX3、CMSS1、INTU、RNF144B、KIF6、CSMD1、DCAF4L2、ROR2、SUPV3L1、TBX3、LINC00371、C14orf64、SALL1、RPGRIP1L、CASC17、SOX9、PAX1	鼻、眼、唇	[65]
欧亚	612	PRDM16、LYPLAL1、EDAR、PAX3、CACNA2D3、SUPT3H、DKK1、TNFSF12	鼻、眼	[66]
亚洲	50	RGPD3、IGSF3、SLC28A3、USP40	颅骨形态、面部性状、鼻、耳	[67]
美洲	6169	IGSF11、STXBP5-AS1、COBL、HDAC9、CPED1/WNT16、VPS13B、LSP1、SMG6	鼻、眼、下巴、唇、前额	[68]
欧洲	2187	PARK2、HDAC8、FREM1	鼻、唇	[69]
欧洲	58032	94个变异位点涉及64个基因，包括HOXD cluster、BMP4、MSX2、PAX3、SOX9、BMP7、ROBO1、GSC、TBX15、FREM1、ZIC1等	下巴酒窝，鼻子大小	[70]
非洲	3505	SCHIP1、PDE8A、TFAP2B、KHDRBS3	面部形状、大小，眼，唇	[71]
欧洲	3399	TMEM163、PCDH15、MBTPS1	眼、面部	[72]
亚洲	2659	DENND1B、PISRT1、DCHS2/SFRP2、VPS13B	下巴、眼、鼻	[73]
欧洲	2329	筛选出38个基因位点其中15个在独立样本群中得以验证，包括 TBX15、ASPM、PAX3、DCSH2、SOX9等	鼻、下巴	[57]
欧洲	8246	筛选出203个基因组显著性信号，涉及181个基因，包括BMP4、BMP7、FGF8、DHX35、INTU、PAX7、PAX3、SOX9、TWIST1、COL11A2、WIF1 ZIC3、SNAI2、TCF4、MSX1、FGFR2、WIF1、WNT16等	嘴唇、鼻子、上庭、下庭	[5]
亚洲	6968	筛选出166个基因位点包括244个变异位点，涉及204个基因，包括PAX1、PAX3、DCHS2、SOX9、DHX35、ALX、BMP4、MSX2、PAX7、DLX5、TCF4、MSX1、ETS1、HDAC9、TFAP2B等	整个面部、上颌骨、鼻(关联位点最多)、上唇、下唇、前额、颧骨、颞部、眼、眉间距、下颌骨	[74]

表1

图3

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神经嵴发育调控及颅面部遗传基础研究进展

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