神经嵴细胞和神经嵴病及其致病机制的研究进展

doi:10.16288/j.yczz.21-253

遗传 ›› 2022, Vol. 44 ›› Issue (2): 117-133.doi: 10.16288/j.yczz.21-253

神经嵴细胞和神经嵴病及其致病机制的研究进展

蒋卓远¹(), 查艳¹, 石小峰^3,⁴, 张永彪^2,^3,⁴()

1. 北京航空航天大学生物与医学工程学院,北京 100000
2. 北京航空航天大学医学科学与工程学院,北京 100000
3. 北京航空航天大学大数据精准医疗高精尖创新中心,北京 100000
4. 工信部大数据精准医疗重点实验室,北京 100000

收稿日期:2021-09-29 修回日期:2021-12-11 出版日期:2022-02-20 发布日期:2022-01-04
通讯作者: 张永彪 E-mail:SY1910307@buaa.edu.cn;zhangyongbiao@buaa.edu.cn
作者简介:蒋卓远,在读硕士研究生,专业方向：基础医学。E-mail: SY1910307@buaa.edu.cn
基金资助:
国家自然科学基金编号(82171844);国家自然科学基金编号(81970898);北京市自然科学基金资助编号(7204273)

Research progress on neural crest cells and neurocristopathies and its pathogenesis

Zhuoyuan Jiang¹(), Yan Zha¹, Xiaofeng Shi^3,⁴, Yongbiao Zhang^2,^3,⁴()

1. School of Biological Science and Medical Engineering, Beihang University, Beijing 100000, China
2. School of Medicine and Engineering, Beihang University, Beijing 100000, China
3. Beijing Advanced Innovation Center for Big Data-Based Precision Medicine, Beihang University, Beijing 100000, China
4. Key Laboratory of Big Data-Based Precision Medicine (Beihang University), Ministry of Industry and Information Technology, Beijing 100000, China;

Received:2021-09-29 Revised:2021-12-11 Online:2022-02-20 Published:2022-01-04
Contact: Zhang Yongbiao E-mail:SY1910307@buaa.edu.cn;zhangyongbiao@buaa.edu.cn
Supported by:
Supported by the National Natural Science Foundation of China Nos(82171844);Supported by the National Natural Science Foundation of China Nos(81970898);Beijing Natural Science Foundation Project No(7204273)

摘要/Abstract

摘要：

神经嵴细胞(neural crest cells,NCCs)是一类脊椎动物特有的可迁移的多能干细胞,其可分化为软骨细胞、神经元和黑色素细胞等多种类型细胞。NCCs的形成、迁移和分化受到严格调控,任何扰乱NCCs发育的因素都可导致胚胎发育畸形。由神经嵴细胞发育异常所导致的一系列疾病统称为神经嵴病(neurocristopathies,NCPs)。NCPs种类繁多且表型复杂,可累及人体多个部位(颅面部、心脏、肠胃和皮肤等),严重危害患者的身体机能和心理健康。NCPs占所有出生缺陷患儿的1/3,遗传因素是导致NCPs的主要风险因素,但环境风险因子以及基因-环境交互作用异常也可导致NCPs。本文对神经嵴细胞和神经嵴病及其致病机制进行综述,为系统认知神经嵴细胞发育以及神经嵴病提供参考,为了解神经嵴病的病因以及开展有效防控提供科学支撑。

关键词: 神经嵴细胞, 神经嵴病, 基因调控网络, 风险因素, 发病机制

Abstract:

Neural crest cells (NCCs) are multipotent progenitor cells unique to vertebrates, and they have the ability to differentiate into a variety of cells, such as chondrocytes, neurons, and melanocytes. The formation, migration, and differentiation of NCCs are tightly regulated, and the disruption of NCC development results in abnormal embryo development. Neurocristopathies (NCPs) refer to a group of diseases that develop in response to abnormal development of NCCs. NCPs are of various types and exhibit complex phenotypes, which can affect many parts of the human body, such as the craniofacial structure, heart, intestine, and skin. NCPs negatively impact the physical function and mental health of the affected patients. NCPs account for one third of the defects in children with birth defects. Genetic factors are the main risk factors for NCPs, but environmental factors and abnormal gene-environment interactions can also lead to the development of NCPs. In this review, we introduce NCCs, NCPs, and their pathogenesis, so as to provide a reference point for a systematic understanding of NCPs and NCC development, and to provide scientific support for understanding the etiology of NCPs and their effective prevention and control.

Key words: neural crest cells (NCCs), neurocristopathy, genetic regulation network, risk factors, pathogenesis

蒋卓远, 查艳, 石小峰, 张永彪. 神经嵴细胞和神经嵴病及其致病机制的研究进展[J]. 遗传, 2022, 44(2): 117-133.

Zhuoyuan Jiang, Yan Zha, Xiaofeng Shi, Yongbiao Zhang. Research progress on neural crest cells and neurocristopathies and its pathogenesis[J]. Hereditas(Beijing), 2022, 44(2): 117-133.

图/表 11

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附NCPs分类统计Venn图根据受累神经嵴细胞发育过程对神经嵴病进行分类,重叠部分清楚地显示了某些NCPs归因于多个过程发育受阻。 Abbreviations of NCPs described in this article: TCS: Treacher Collins syndrome Treacher Collins综合征;KS: Kallmann Syndrome Kallmann综合征;PRS: Pierre Robin Sequence皮埃尔·罗宾序列;HPE: holoprosencephaly前脑无裂畸形;HH: hypogonadotropic hypogonadism 性腺功能减退症;MBS: Moebius Syndrome莫比乌斯综合征;3MC: 3MC Syndrome 3MC综合征;ADULT: ADULT Syndrome ADULT综合征;AEC: AEC Syndrome AEC综合征;AS: Alagille Syndrome Alagille综合征;BOR: Branchio-Oto-Renal Syndrome鳃-耳-肾综合征;CADASIL: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy大脑常染色体显性动脉病变伴皮层下梗死和白质脑病;CDHS: Craniofacial-Deafness-Hand Syndrome 颅面-耳聋-手综合征;GCMN: Giant Congenital Melanocytic Nevi巨大先天性黑素细胞痣;NF1: Neurofibromatosis I Ⅰ型神经纤维瘤;WS: Waardenburg syndrome瓦登伯格综合征;CED: Cranioectodermal dysplasia/Sensenbrenner syndrome颅骨外胚层发育不良/Sensenbrenner综合征;EEC3: EEC3 syndrome EEC3综合征;EVC: Ellis-van Creveld syndrome软骨外胚层发育不良;FASD: Fetal Alcohol Spectrum Disorder胎儿酒精谱系障碍;GDFD: Growth Retardation, Developmental Delay, and Facial Dysmorphism生长迟缓,发育迟缓,面部畸形;HCS: Hajdu-Cheney Syndrome Hajdu-Cheney综合征;FS: Klippel-Feil Syndrome先天性短颈综合征;LMS: Limb-Mammary Syndrome四肢-乳腺综合征;MFDA: Mandibulofacial Dysostosis with Alopecia颌面部发育不良伴脱发;MS: Multiple sclerosis多发性硬化症;NAD: Nager Acrofacial Dysostosis Nager综合征;NS: Noonan syndrome Noonan综合征;PA: Peters Anomaly Peter异常/前段发育不良;PHACE: PHACE Syndrome PHACE综合征;SAMS: SAMS disorder SAMS异常;SHFM4: Split-hand/split-foot malformation type 4裂手/裂脚畸形4型;TDO: Tricho-dento-osseous syndrome毛齿骨综合征;22q11: 22q11.2 Deletion Syndrome (DGS) 22q11.2缺失综合症;AAA: Achalasia- Addisonianism-Alacrima Syndrome AAA综合征;ACS: Auriculo Condylar Syndrome耳廓-髁状突综合征;ARS: Axenfeld- Rieger Syndrome Axenfeld-Rieger综合征;BLS: Bamforth-Lazarus syndrome Bamforth-Lazarus综合症;BOFS: Branchio-Oculo-Facial Syndrome 鳃-眼-面部综合征;BS: Binder Syndrome Binder综合征;CCHS: Congenital Central Hypoventilation Syndrome先天性中枢性通气不足综合征;CHARGE: CHARGE syndrome CHARGE综合征;CMT: Charcot-Marie-Tooth and Deafness Syndrome腓骨肌萎缩症和耳聋综合症;CS: Craniosynostosis颅缝早闭;DBA: Diamond Blackfan Anemia先天性再生障碍性贫血;FD: Familial dysautonomia家族性自主神经障碍;FMTC: Familial medullary thyroid carcinomas家族性甲状腺髓样癌;HFM: Hemifacial microsomia半侧颜面短小."

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受累部位	临床表型	神经嵴病	参考文献
颅面部	眼：眼歪斜,睫毛稀疏,眼色素异常耳：耳道和耳廓发育不全(小耳畸形) 颌：上颌骨发育不良(腭裂)	TCS、CS、HFM Cleft lip and palate、 CHARGE	[22]
内脏器官	贫血、血管畸形、心脏缺损、心脏流出道缺损、肝损伤、肠梗阻、肾功能不全、呼吸障碍	DBA、CADSIL、 PHACES、Alagille HSCR、AAA、CCHS	[23]
四肢	四肢骨骼发育异常、手指/脚趾畸形、运动能力发育迟缓	NAS、CHARGE	[24]
皮肤	色斑皮肤、白化病皮肤、黑色素瘤、胸部骨骼异常、头发稀疏、生殖器畸形	NS、OCA、Piebaldism HED、CHARGE	[25]
整体	生长发育迟缓	CPHD、GDFD	[26]

神经嵴细胞发育阶段	调控基因	神经嵴病	相关信息	参考文献
神经嵴细胞的形成	SOX9	PRS	转录因子、骨骼发育、颅面部畸形	[37]
	PAX3	WS、CDHS	转录因子、骨骼、肌肉、黑色素发育异常	[38]
	TFAP2A	BOFS	调节AP-2α转录因子、PA1/2发育、鳃-眼-面畸形	[39]
	TCOF1 POLR1C/D	TCS	核糖体合成异常、NCCs异常凋亡、颅面部畸形	[40,41]
	RPs	DBA	核糖体合成异常、造血细胞凋亡、骨髓异常	[42]
	DHODH	MS	核糖体合成异常、颅面部、四肢骨骼异常	[43]
	SF3B4	NS	mRNA合成异常、面部、四肢骨骼异常、BMP通路	[44]
神经嵴细胞的迁移	Snail2	Piebaldism、WS	KIT和E-cadherin转录抑制因子、黑色素细胞迁移	[45]
	EDNRB END3	HSCR、WS	Eph/Ephrin信号、NCCs迁移、肠神经和黑色素细胞	[46]
	MID1	BBB	微管形成、蛋白代谢异常、NCCs迁移受阻	[47]
	ELP1	FD	细胞骨架的形成、自主神经元的迁移	[48]
神经嵴细胞的分化	PHOX2B	NB、CDHS、HSCR	神经元的形成、调节神经元成熟和分化、自主神经	[49]
	MITF	WS、Tietz	转录因子、黑色素细胞发育、影响破骨细胞发育	[50]
	SOX10	WS、HSCR 黑色素瘤	转录因子、肠道神经元形成和黑色素细胞发育	[51]
	KIT	Piebaldism	激活RET和Nanog通路、黑色素细胞分化异常	[52]
	NOTCH3	CADSIL	血管平滑肌细胞的形成、影响脑部血管发育	[53]
	FGF8 FDFR1	HH、KS、CPHD	促性腺激素释放激素神经元发育、嗅觉神经元发育	[54]
	TP63	AEC、LMS、ADULT	肿瘤蛋白p63、外胚层、口腔和肢体发育	[55]

修饰类型		影响基团	基因	靶基因	神经嵴发育过程	神经嵴病	参考文献
DNA甲基化		-	DNMT3A	Sox2、Sox3	NCCs发育	-	[60]
DNA甲基化		-	DNMT3B	-	NCCs分化	ICF、HSCR	[61]
组蛋白修饰	甲基化	H3K27me3	Aebp2-PRC2	Ret、Gdnf、Ednrb、Sox10、Bmp4、 Pax3、Snail2、Phox2b、Zfhx1b	NCCs特化, 迁移	-	[59,62]
		H3K9me3、H3K36me3	KDM4A	Sox10、Snail2	NCCs发育、黑色素细胞发育	-
		H3K20me1、H3K9me1/2	PHF8	MSX1、MSXB	颅NCCs发育	唇腭裂
		H3K36me3	WHSC1、WHSC2、 LETM1	Pdgfra	迷走NCCs发育、心脏发育异常	Wolf-Hirschhorn 综合征
		H3K9	EHMT1		迷走NCCs发育	Kleefstra综合征	[63]
		H3K4me1/2、H3K27	KMT2D、UTX、KDM6A	-	迷走NCCs分化	歌舞伎综合征	[64]
	乙酰化		HDAC1	FoxD3	黑色素细胞发育		[65]
		-	HDAC3	-	迷走NCCs发育	-	[66]
		-	HDAC4	-	颅NCCs发育	-	[67]
		-	HDAC8	Otx2、Lhx1	颅NCCs发育	BDMR	[68]
		H3KAc	PHD12、 Sin3A、HDAC	Cad6b	NCCs迁移	-	[69]
	变异	H3.3	-	-	颅NCCs间充质	-	[70]
染色质修饰		-	CHD7	Sox9、Twist、Snail2	NCCs发育	CHARGE	[24]
		-	WSTF	-	NCCs迁移、数量维持	WS	[71]
		SWI/SNF complex	Brg1	-	NCCs诱导、分化	Coffin-Siris 综合征	[72]
miRNA 调控		miR-1、miR-23a		Sec63	CNCCs迁移、分化	-	[73,74]
		-	-	TFAP2A	第一二鳃弓发育	BOFS	[73]
		miR-34B、miR-146a、miR-196a2、miR-200A、miR-141、miR-192、miR-195、miR-206、miR-218-1	-	-	NCCs迁移、增值	HSCR	[75]
		miR-140、miR-96、miR-141-200a、miR-429	-	Pdgfra、Tbx1、 Dlx5、FoxD3	分化软骨细胞、分化色素细胞	-	[76~,78,79]

神经嵴细胞和神经嵴病及其致病机制的研究进展

Research progress on neural crest cells and neurocristopathies and its pathogenesis

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表型	发病率	单侧比例(%)	左侧(%)	右侧(%)	参考文献
唇腭裂	2/1000	80	64	36	[27]
半侧颜面短小畸形	1/5600	70~90	40	60	[28]
眼缺损	0.6~0.9/1000	-	57	43	[29]
上眼睑下垂	1.8/1000	97	74	26	[30]

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