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The genetics of plant metabolism 总被引:11,自引:0,他引:11
Keurentjes JJ Fu J de Vos CH Lommen A Hall RD Bino RJ van der Plas LH Jansen RC Vreugdenhil D Koornneef M 《Nature genetics》2006,38(7):842-849
Variation for metabolite composition and content is often observed in plants. However, it is poorly understood to what extent this variation has a genetic basis. Here, we describe the genetic analysis of natural variation in the metabolite composition in Arabidopsis thaliana. Instead of focusing on specific metabolites, we have applied empirical untargeted metabolomics using liquid chromatography-time of flight mass spectrometry (LC-QTOF MS). This uncovered many qualitative and quantitative differences in metabolite accumulation between A. thaliana accessions. Only 13.4% of the mass peaks were detected in all 14 accessions analyzed. Quantitative trait locus (QTL) analysis of more than 2,000 mass peaks, detected in a recombinant inbred line (RIL) population derived from the two most divergent accessions, enabled the identification of QTLs for about 75% of the mass signals. More than one-third of the signals were not detected in either parent, indicating the large potential for modification of metabolic composition through classical breeding. 相似文献
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Sharp AJ Hansen S Selzer RR Cheng Z Regan R Hurst JA Stewart H Price SM Blair E Hennekam RC Fitzpatrick CA Segraves R Richmond TA Guiver C Albertson DG Pinkel D Eis PS Schwartz S Knight SJ Eichler EE 《Nature genetics》2006,38(9):1038-1042
Genomic disorders are characterized by the presence of flanking segmental duplications that predispose these regions to recurrent rearrangement. Based on the duplication architecture of the genome, we investigated 130 regions that we hypothesized as candidates for previously undescribed genomic disorders. We tested 290 individuals with mental retardation by BAC array comparative genomic hybridization and identified 16 pathogenic rearrangements, including de novo microdeletions of 17q21.31 found in four individuals. Using oligonucleotide arrays, we refined the breakpoints of this microdeletion, defining a 478-kb critical region containing six genes that were deleted in all four individuals. We mapped the breakpoints of this deletion and of four other pathogenic rearrangements in 1q21.1, 15q13, 15q24 and 17q12 to flanking segmental duplications, suggesting that these are also sites of recurrent rearrangement. In common with the 17q21.31 deletion, these breakpoint regions are sites of copy number polymorphism in controls, indicating that these may be inherently unstable genomic regions. 相似文献
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Huber C Dias-Santagata D Glaser A O'Sullivan J Brauner R Wu K Xu X Pearce K Wang R Uzielli ML Dagoneau N Chemaitilly W Superti-Furga A Dos Santos H Mégarbané A Morin G Gillessen-Kaesbach G Hennekam R Van der Burgt I Black GC Clayton PE Read A Le Merrer M Scambler PJ Munnich A Pan ZQ Winter R Cormier-Daire V 《Nature genetics》2005,37(10):1119-1124
Intrauterine growth retardation is caused by maternal, fetal or placental factors that result in impaired endovascular trophoblast invasion and reduced placental perfusion. Although various causes of intrauterine growth retardation have been identified, most cases remain unexplained. Studying 29 families with 3-M syndrome (OMIM 273750), an autosomal recessive condition characterized by severe pre- and postnatal growth retardation, we first mapped the underlying gene to chromosome 6p21.1 and then identified 25 distinct mutations in the gene cullin 7 (CUL7). CUL7 assembles an E3 ubiquitin ligase complex containing Skp1, Fbx29 (also called Fbw8) and ROC1 and promotes ubiquitination. Using deletion analysis, we found that CUL7 uses its central region to interact with the Skp1-Fbx29 heterodimer. Functional studies indicated that the 3-M-associated CUL7 nonsense and missense mutations R1445X and H1464P, respectively, render CUL7 deficient in recruiting ROC1. These results suggest that impaired ubiquitination may have a role in the pathogenesis of intrauterine growth retardation in humans. 相似文献
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A Collet M Raoul P Collier N Baumann C Jacque 《Comptes rendus des séances de l'Académie des sciences. Série D, Sciences naturelles》1979,288(19):1465-1468
A great variation was observed in the amount of soluble GFA depending on the brain area. Large amounts were found in the chiasma and in the pons whereas the cortical grey matter was poor. It is suggested that soluble GFA represents a potentiality of defense of the nervous tissue. 相似文献