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SANDRINE LADEVÈZE 《Zoological Journal of the Linnean Society》2007,150(1):85-115
Metatherian petrosal bones were recovered from the early Late Palaeocene Itaboraí, Brazil, and are formally described. A cladistic analysis of the distribution of 56 petrosal and basicranial characters among extant and fossil metatherians was conducted, resulting in seven parsimonious trees. Relationships among metatherian ingroup taxa are congruent with current understanding of metatherian phylogeny. Metatheria is diagnosed by eight petrosal synapomorphies: stapedial artery absent in adults; reduced, intramural prootic canal; extrabullar internal carotid artery; inferior petrosal sinus between petrosal, basisphenoid, and basioccipital; cava supracochleare and epiptericum completely separated; reduction of the lateral flange; reduction of the anterior lamina; separation of the jugular foramen from the opening for the inferior petrosal sinus. The Palaeocene taxa Mayulestes , Pucadelphy s, and Andinodelphys from Tiupampa, and Petrosal Type II from Itaboraí are the sister groups of all other South American and Australian metatherians. This analysis confirms previous results showing the South American 'monito del monte' Dromiciops nested within the Australasian radiation. Within this australidelphian clade, Dromiciops is closely related to the dasyurids. The South American Caenolestes appears more closely related to the Australidelphia than to the South American didelphids. The Petrosal Types I, III, IV and V from Itaboraí are the stem taxa of the clade Australidelphia plus Caenolestes . The significant synapomorphies supporting this relationship are: enlargement of the fossa subarcuata that produces a bulbous ventral aspect of the mastoid and loss of post-temporal canal. Journal compilation © 2007 The Linnean Society of London, Zoological Journal of the Linnean Society , 2007, 150 , 85–115. No claim to original French government works. 相似文献
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Devgan SS Sanal O Doil C Nakamura K Nahas SA Pettijohn K Bartek J Lukas C Lukas J Gatti RA 《Cell death and differentiation》2011,18(9):1500-1506
Maintaining genomic integrity is critical to avoid life-threatening disorders, such as premature aging, neurodegeneration and cancer. A multiprotein cascade operates at sites of DNA double-strand breaks (DSBs) to recognize, signal and repair damage. RNF168 (ring-finger nuclear factor) contributes to this emerging pathway of several E3 ubiquitin ligases that perform sequential ubiquitylations on damaged chromosomes, chromatin modifications essential for aggregation of repair complexes at the DSB sites. Here, we report the clinical and cellular phenotypes associated with a newly identified homozygous nonsense mutation in the RNF168 gene of a patient with a syndrome mimicking ataxia-telangiectasia. The mutation eliminated both of RNF168's ubiquitin-binding motifs, thus blocking progression of the ubiquitylation cascade and retention of repair proteins including tumor suppressors 53BP1 and BRCA1 at DSB sites, consistent with the observed defective DNA damage checkpoints/repair and pronounced radiosensitivity. Rapid screening for RNF168 pathway deficiency was achieved by scoring patients' lymphoblastoid cells for irradiation-induced nuclear foci containing 53BP1, a robust assay we propose for future diagnostic applications. The formation of radiation-induced DSB repair foci was rescued by ectopic expression of wild-type RNF168 in patient's cells, further causally linking the RNF168 mutation with the pathology. Clinically, this novel syndrome featured ataxia, telangiectasia, elevated alphafetoprotein, immunodeficiency, microcephaly and pulmonary failure and has implications for the differential diagnosis of autosomal recessive ataxias. 相似文献
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Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly 总被引:14,自引:0,他引:14
Buck D Malivert L de Chasseval R Barraud A Fondanèche MC Sanal O Plebani A Stéphan JL Hufnagel M le Deist F Fischer A Durandy A de Villartay JP Revy P 《Cell》2006,124(2):287-299
DNA double-strand breaks (DSBs) occur at random upon genotoxic stresses and represent obligatory intermediates during physiological DNA rearrangement events such as the V(D)J recombination in the immune system. DSBs, which are among the most toxic DNA lesions, are preferentially repaired by the nonhomologous end-joining (NHEJ) pathway in higher eukaryotes. Failure to properly repair DSBs results in genetic instability, developmental delay, and various forms of immunodeficiency. Here we describe five patients with growth retardation, microcephaly, and immunodeficiency characterized by a profound T+B lymphocytopenia. An increased cellular sensitivity to ionizing radiation, a defective V(D)J recombination, and an impaired DNA-end ligation process both in vivo and in vitro are indicative of a general DNA repair defect in these patients. All five patients carry mutations in the Cernunnos gene, which was identified through cDNA functional complementation cloning. Cernunnos/XLF represents a novel DNA repair factor essential for the NHEJ pathway. 相似文献
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为了研究环境中非寄主阔叶植物释放出的绿叶挥发性物质(GLVs)对针叶树蛀干害虫云南切梢小蠹Tomicus yunnanesis的影响, 选取了(E)-2-己烯醛、 (E)-2-己烯醇和(Z)-3-己烯醇3种释放量较大的绿叶挥发性物质, 通过室内松梢取食试验测试了单组分及两两混合后对云南切梢小蠹寄主定位行为的干扰作用。结果表明: 源于阔叶植物的3种绿叶挥发性物质及其混合物能够不同程度干扰云南切梢小蠹的寄主定位行为。当虫放入广口瓶12 h后, 3个单组分绿叶挥发性物质处理组[A: (E)-2-己烯醛, P<0.01; B: (E)-2-己烯醇, P<0.01; C: (Z)-3-己烯醇, P<0.01]及2个混合组分[D: (E)-2-己烯醛+(E)-2-己烯醇, P<0.01); E: (E)-2-己烯醛+(Z)-3-己烯醇, P<0.01]中滞留在松梢外部的虫数与对照组相比都有显著性差异, 绿叶挥发性物质的存在显著降低了云南切梢小蠹侵害云南松松梢的概率。但是, 24 h后只有D组(P<0.01)和E组(P<0.01)滞留在松梢外部的虫数与对照组相比具有显著性差异, 在48 h后只有D组(P<0.01)与对照相比仍具有显著性差异。本研究为利用非寄主植物的次生代谢产物防治云南切梢小蠹进行了有益的探索。 相似文献
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评估益生菌粉(副干酪乳酪杆菌207-27)的毒理学安全性,为其应用提供依据。
通过大鼠急性经口毒性试验、细菌回复突变试验、小鼠红细胞微核试验、小鼠精母细胞染色体畸变试验及大鼠28 d经口毒性试验研究益生菌粉(副干酪乳酪杆菌207-27)的安全性。
大鼠急性经口毒性试验结果显示,益生菌粉(副干酪乳酪杆菌 207-27)对大鼠的经口急性毒性LD50均大于15.00 g/(kg•BW),根据急性毒性分级标准属实际无毒。细菌回复突变试验、小鼠红细胞微核试验及小鼠精母细胞染色体畸变试验结果均显示阴性。大鼠28 d经口毒性试验结果表明,实验组大鼠体质量、摄食量、食物利用率、眼部状况、血液学指标、血液生化指标、脏器指数、大体及病理学检查结果与对照组相比差异均无统计学意义。
益生菌粉(副干酪乳酪杆菌207-27)具有良好的毒理学安全性。
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Localization of an Ataxia-Telangiectasia Gene to an −500-kb Interval on Chromosome 11q23.1: Linkage Analysis of 176 Families by an International Consortium 下载免费PDF全文
Ethan Lange Anna-Lise Borresen Xiaoguang Chen Luciana Chessa Sujata Chiplunkar Patrick Concannon Sugandha Dandekar Steven Gerken Kenneth Lange Teresa Liang Carmel McConville Jeff Polakow Oscar Porras Galit Rotman Ozden Sanal Sepideh Sheikhavandi Yosef Shiloh Eric Sobel Malcolm Taylor Milhan Telatar Sharon Teraoka Aslihan Tolun Nitin Udar Nancy Uhrhammer Lina Vanagaite Zhijun Wang Beth Wapelhorst Jocyndra Wright Huan-Ming Yang Lan Yang Yael Ziv Richard A. Gatti 《American journal of human genetics》1995,57(1):112-119
We describe a 20-point linkage analysis map of chromosome 11q22-23 that is based on genotyping 249 families (59 CEPH and 190 A-T). Monte Carlo linkage analyses of 176 ataxia-telangiectasia (A-T) families localizes the major A-T locus to the region between S1819(A4) and S1818(A2). When seven nonlinking families were excluded from subsequent analyses, a 2-lod support interval of ~500 kb was identified between S1819(A4) and S1294. No recombinants were observed between A-T and markers S384, B7, S535, or S1294. Only 17 of the international consortium families have been assigned to complementation groups. The available evidence favors either a cluster of A-T genes on chromosome 11 or intragenic defects in a single gene. 相似文献
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P Charmley S Wei O Sanal U Malhotra P Concannon C Terhorst R A Gatti 《Nucleic acids research》1989,17(6):2372
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Localization of an ataxia-telangiectasia locus to a 3-cM interval on chromosome 11q23: Linkage analysis of 111 families by an international consortium 总被引:7,自引:6,他引:1 下载免费PDF全文
T. Foroud S. Wei Y. Ziv E. Sobel E. Lange A. Chao T. Goradia Y. Huo A. Tolun L. Chessa P. Charmley O. Sanal N. Salman C. Julier P. Concannon C. McConville A. M. R. Taylor Y. Shiloh K. Lange R. A. Gatti 《American journal of human genetics》1991,49(6):1263-1279
Linkage of at least two complementation groups of ataxia-telangiectasia (AT) to the chromosomal region 11q23 is now well established. We provide here an 18-point map of the surrounding genomic region, derived from linkage analysis of 40 CEPH families. On the basis of this map, 111 AT families from Turkey, Israel, England, Italy, and the United States were analyzed, localizing the AT gene(s) to an 8-cM sex-averaged interval between the markers STMY and D11S132/NCAM. A new Monte Carlo method for computing approximate location scores estimates this location as being at least 10(8) times more likely than the next most likely interval, with a support interval midway between STMY and D11S132 that is either 5.2 cM (sex-averaged and conservatively based on 3 lod scores from the maximum-location score) or 2.8 cM (male specific, based on a 2.72:1 interval-specific female-to-male distance ratio. 相似文献