Differential expression of long noncoding RNAs in congenital microtia

ObjectiveTo analyse lncRNA expression profiles in microtia using bioinformatics analysis.MethodsWe examined lncRNA expression profiles in residual ear cartilage and normal ear cartilage from individual congenital microtia patients.ResultsThe gene chips used in this study included 30586 lncRNAs and 26109 mRNA probes. Intotal, 180 lncRNAs with differential expression weredetected in the residual ear cartilage compared with the normal cartilage, including 74 up-regulated and 106down-regulated lncRNAs. Signalling pathway analysis highlighted glyceride metabolism, osteoclast differentiation, andtumour growth. The results of qRT-PCR analysis were consistent with those of themicroarray.ConclusionDifferential expression of lncRNAs occurs in microtia. These lncRNAs and related signalling pathways may play an important role in the occurrence and development ofmicrotia.     

先天性小耳畸形危险因素研究进展

先天性小耳畸形即小耳症,主要指耳廓、外耳道的畸形、听力损害等,少数患者合并外耳道闭锁、中耳及面部畸形。尽管先天性小耳畸形的发病机制尚未完全明确,但已有研究证实其发生可能与环境和遗传因素有关。因此,对于相关流行病学调查的相关因素与风险因素的研究与规避,并以此指导开展针对性防治工作显得尤为重要。本文将从流行病学特征及相关危险因素两个方面对于病因学进行探讨与总结。     

First European evidence for transcontinental dispersal of Crocodylus (late Neogene of southern Italy)

It is generally assumed that the Neogene crocodylian fauna of Europe has been represented only by brevirostrine alligatoroid Diplocynodon and longirostrine false gharials ( Gavialosuchus and/or Tomistoma ), which became extinct prior to 6 Mya. Although several lines of evidence suggest that Crocodylus originated in Africa during the Miocene and then promptly dispersed to other continents, the occurrence of this genus in Europe has never been rigorously proven and the traditional palaeontological approach failed to identify a monophyletic group of fossil Crocodylus (simply leading to a proliferation of extinct taxa). The new remains reported here, from an endemic insular fauna from southern Italy, Late Messinian to earliest Pliocene in age (5–6 million years old), represent the youngest European crocodylian, and allow, for the first time in a phylogenetic context, an unambiguous demonstration that Crocodylus dispersed into Europe, possibly during the Tortonian. If the peculiar morphology of the medial maxillary edge is interpreted as evidence for a medial dorsal boss, the southern Italian Crocodylus could be related to C. checchiai from the late Neogene of Libya. The presence of this African immigrant in Europe confirms the role of climate change for faunal dispersal and island colonization.  © 2007 The Linnean Society of London, Zoological Journal of the Linnean Society , 2007, 149 , 293–307.     

Goosecoid基因突变与先天性小耳畸形的关系

目的:对收集的43例先天性小耳畸形患者进行遗传因素分析,对Goosecoid(GSC)基因测序,探讨GSC基因与先天性小耳畸形的关系。方法:采集43例小耳畸形患者的外周血提取基因组DNA,对GSC基因的三个外显子分别设计引物,经PCR扩增纯化后直接测序。结果:6例患者在第二外显子的第197bp处发生了C→T的同义突变,编码氨基酸仍为酪氨酸;2例患者在第三外显子的第125bp处发生了A→G的错义突变,编码氨基酸由谷氨酸变成谷氨酰胺。结论:在先天性小耳畸形的患者中发现了GSC基因的突变。     

The skull of Microtia, an extinct burrowing murine rodent of the late Neogene Gargano palaeoisland

The Neogene Gargano paleoisland (southern Italy) has yielded numerous fossil vertebrates, some of them showing extraordinary morphological peculiarities. Among these endemic species, the rodent genus Microtia Freudenthal, 1976, is represented by three main lineages that evolve toward gigantism. This genus is the most significant and abundant rodent represented in the Gargano palaeofaunas. Its evolutionary trends reveal an increase of size, accompanied by a complication of molar structure. Before carrying out a study on the Gargano rodent community, its structure and its evolution, it was necessary to characterize Microtia's ecological adaptations. Microtia was adapted to burrowing life, which appears to be a unique adaptation for a murine rodent, since European burrowing Plio-Pleistocene and extant rodents are only represented by arvicolids. Therefore, the extinction of Microtia is likely to be due to competition with arvicolids after the breakdown of isolation, since they occupied very similar ecological niches.