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鸡发育过程中KAL基因在多个神经位点的表达。

Expression of the KAL gene in multiple neuronal sites during chicken development.

作者信息

Legouis R, Lievre C A, Leibovici M, Lapointe F, Petit C

机构信息

Unité de Génétique Moléculaire Humaine (Centre National de la Recherche Scientifique URA 1445), Institut Pasteur, Paris, France.

出版信息

Proc Natl Acad Sci U S A. 1993 Mar 15;90(6):2461-5. doi: 10.1073/pnas.90.6.2461.

Abstract

The human KAL gene is responsible for the X chromosome-linked Kallmann syndrome. A partial cDNA sequence from the chicken KAL homologue was determined and used to study expression of the KAL gene, by in situ hybridization, during chicken development, from day 6 of incubation. The KAL gene is mainly expressed in neurons of the central nervous system during the second half of embryonic life. High levels of transcript were detected in mitral neurons of the olfactory bulbs, in striatal neurons, in Purkinje cells of the cerebellum, in retinal neurons, and in isolated neurons of the brainstem and spinal cord. No expression was observed in glial cells. A low level of expression was observed in some mesenchymal derivatives. In the adult, expression is maintained or increased in several neuronal populations, especially in optic tectum and striatum. A possible role for the KAL protein in synaptogenesis at these stages is discussed. These results in the chicken embryo help to elucidate the mechanisms of anosmia and gonadotropin-releasing hormone deficiency, which define Kallmann syndrome. In addition, most of the occasional symptoms described in Kallmann syndrome patients, such as cerebellar ataxia, abnormal ocular movements, abnormal spatial visual attention, mirror movements, and renal aplasia, could be ascribed to malfunction of areas that, in the chicken, express the KAL gene.

摘要

人类KAL基因与X染色体连锁的卡尔曼综合征有关。测定了鸡KAL同源物的部分cDNA序列,并通过原位杂交技术,用于研究从孵化第6天开始的鸡发育过程中KAL基因的表达情况。在胚胎发育后期,KAL基因主要在中枢神经系统的神经元中表达。在嗅球的二尖瓣神经元、纹状体神经元、小脑的浦肯野细胞、视网膜神经元以及脑干和脊髓的孤立神经元中检测到高水平的转录本。在神经胶质细胞中未观察到表达。在一些间充质衍生物中观察到低水平的表达。在成体中,几个神经元群体中的表达得以维持或增加,尤其是在视顶盖和纹状体中。讨论了KAL蛋白在这些阶段突触形成中的可能作用。鸡胚胎中的这些结果有助于阐明定义卡尔曼综合征的嗅觉缺失和促性腺激素释放激素缺乏的机制。此外,卡尔曼综合征患者描述的大多数偶发症状,如小脑共济失调、异常眼球运动、异常空间视觉注意力、镜像运动和肾发育不全,可以归因于在鸡中表达KAL基因的区域功能异常。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e879/46107/39511b43936d/pnas01465-0374-a.jpg

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