{"title":"兔FGFR2 cDN的克隆与测序","authors":"Zi-Wei Yang, M. Mooney, R. Ferrell","doi":"10.3109/10425170009033994","DOIUrl":null,"url":null,"abstract":"Normal development of the mammalian skull requires differentiation and coordination of all the outgrowing bones, particularly at sites of articulation knows as sutures. Such growth is necessary to accommodate an enlarging brain., Approximately 1 in 2500 human infants is born with craniosynostosis, the premature fusion of one or more calvarial sutures. This condition disrupts allometric growth and results in classic craniofacial features, including abnormal head shape, protruding eyes and midface underdevelopment (Hunter and Rudd, 1976; 1977; Lajeunie et al., 1995; 1996). Approximately 100 syndromes which include craniosynostosis are known and these syndromes are usually monogenic with an autosomal dominant mode of transmission. Recently, a number of mutations have been identified in three of the four members of the fibroblast growth factor receptor (FGFR) family as a cause of simple craniosynostosis and syndromes which include craniosynostosis as part of the phenotype, including Pfeiffer, Crouzon and Jackson-Weiss syndromes (Webster and Donoghue, 1997). The FGFRs are high-affinity receptors for the fibroblast growth factors, a family of at least 13 structurally related proteins (Smallwood et al., 1996) involved in a wide range of biological processes, including cell growth, differentiation, migration, wound healing and angiogenesis, depending on the target cell type and developmental stage (Basilico and Moscatelli, 1992; Fernig and Gallagher, 1994). The four FGFRs that have been described thus far exhibit a similar structure, consisting of an extracellular region made of three immunoglobulin-like (Ig-like) domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain (Jaye et al., 1992; Partanen et al., 1993).","PeriodicalId":11381,"journal":{"name":"DNA Sequence","volume":"29 1","pages":"439 - 446"},"PeriodicalIF":0.0000,"publicationDate":"2000-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"Cloning and Sequencing of the Rabbit FGFR2 cDN A\",\"authors\":\"Zi-Wei Yang, M. Mooney, R. Ferrell\",\"doi\":\"10.3109/10425170009033994\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Normal development of the mammalian skull requires differentiation and coordination of all the outgrowing bones, particularly at sites of articulation knows as sutures. Such growth is necessary to accommodate an enlarging brain., Approximately 1 in 2500 human infants is born with craniosynostosis, the premature fusion of one or more calvarial sutures. This condition disrupts allometric growth and results in classic craniofacial features, including abnormal head shape, protruding eyes and midface underdevelopment (Hunter and Rudd, 1976; 1977; Lajeunie et al., 1995; 1996). Approximately 100 syndromes which include craniosynostosis are known and these syndromes are usually monogenic with an autosomal dominant mode of transmission. Recently, a number of mutations have been identified in three of the four members of the fibroblast growth factor receptor (FGFR) family as a cause of simple craniosynostosis and syndromes which include craniosynostosis as part of the phenotype, including Pfeiffer, Crouzon and Jackson-Weiss syndromes (Webster and Donoghue, 1997). The FGFRs are high-affinity receptors for the fibroblast growth factors, a family of at least 13 structurally related proteins (Smallwood et al., 1996) involved in a wide range of biological processes, including cell growth, differentiation, migration, wound healing and angiogenesis, depending on the target cell type and developmental stage (Basilico and Moscatelli, 1992; Fernig and Gallagher, 1994). The four FGFRs that have been described thus far exhibit a similar structure, consisting of an extracellular region made of three immunoglobulin-like (Ig-like) domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain (Jaye et al., 1992; Partanen et al., 1993).\",\"PeriodicalId\":11381,\"journal\":{\"name\":\"DNA Sequence\",\"volume\":\"29 1\",\"pages\":\"439 - 446\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2000-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"DNA Sequence\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3109/10425170009033994\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"DNA Sequence","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3109/10425170009033994","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 1
摘要
哺乳动物颅骨的正常发育需要所有长出来的骨头的分化和协调,特别是在被称为缝合线的关节部位。这样的生长对于适应不断扩大的大脑是必要的。大约每2500个婴儿中就有1个出生时患有颅缝闭闭,即一条或多条颅骨缝合线过早融合。这种情况会破坏异速生长,导致典型的颅面特征,包括头部形状异常、眼睛突出和中脸发育不全(Hunter and Rudd, 1976;1977;Lajeunie et al., 1995;1996)。包括颅缝闭锁在内的大约100种综合征是已知的,这些综合征通常是单基因的,具有常染色体显性传播模式。最近,在成纤维细胞生长因子受体(FGFR)家族的4个成员中的3个中发现了一些突变,这些突变是导致单纯性颅缝闭塞和包括颅缝闭塞作为表型一部分的综合征的原因,包括Pfeiffer, Crouzon和Jackson-Weiss综合征(Webster和Donoghue, 1997)。fgfr是成纤维细胞生长因子的高亲和力受体,成纤维细胞生长因子是一个由至少13种结构相关蛋白组成的家族(Smallwood等,1996),根据靶细胞类型和发育阶段,参与广泛的生物过程,包括细胞生长、分化、迁移、伤口愈合和血管生成(Basilico和Moscatelli, 1992;ferning and Gallagher, 1994)。迄今为止所描述的四种fgfr具有相似的结构,包括由三个免疫球蛋白样结构域组成的细胞外区域,单个疏水膜跨越段和细胞质酪氨酸激酶结构域(Jaye et al., 1992;Partanen et al., 1993)。
Normal development of the mammalian skull requires differentiation and coordination of all the outgrowing bones, particularly at sites of articulation knows as sutures. Such growth is necessary to accommodate an enlarging brain., Approximately 1 in 2500 human infants is born with craniosynostosis, the premature fusion of one or more calvarial sutures. This condition disrupts allometric growth and results in classic craniofacial features, including abnormal head shape, protruding eyes and midface underdevelopment (Hunter and Rudd, 1976; 1977; Lajeunie et al., 1995; 1996). Approximately 100 syndromes which include craniosynostosis are known and these syndromes are usually monogenic with an autosomal dominant mode of transmission. Recently, a number of mutations have been identified in three of the four members of the fibroblast growth factor receptor (FGFR) family as a cause of simple craniosynostosis and syndromes which include craniosynostosis as part of the phenotype, including Pfeiffer, Crouzon and Jackson-Weiss syndromes (Webster and Donoghue, 1997). The FGFRs are high-affinity receptors for the fibroblast growth factors, a family of at least 13 structurally related proteins (Smallwood et al., 1996) involved in a wide range of biological processes, including cell growth, differentiation, migration, wound healing and angiogenesis, depending on the target cell type and developmental stage (Basilico and Moscatelli, 1992; Fernig and Gallagher, 1994). The four FGFRs that have been described thus far exhibit a similar structure, consisting of an extracellular region made of three immunoglobulin-like (Ig-like) domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain (Jaye et al., 1992; Partanen et al., 1993).