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821.
J K Pritchard 《Nature genetics》2001,28(3):203-204
Association studies have rarely been used in plant genetics, in part because of the risk of false positives caused by population structure. A study of flowering time in maize makes the first use of recent 'structured association' methods-statistical approaches that use independent loci to control for the effects of structure and admixture. 相似文献
822.
823.
L Feliubadaló M Font J Purroy F Rousaud X Estivill V Nunes E Golomb M Centola I Aksentijevich Y Kreiss B Goldman M Pras D L Kastner E Pras P Gasparini L Bisceglia E Beccia M Gallucci L de Sanctis A Ponzone G F Rizzoni L Zelante M T Bassi A L George M Manzoni A De Grandi M Riboni J K Endsley A Ballabio G Borsani N Reig E Fernández R Estévez M Pineda D Torrents M Camps J Lloberas A Zorzano M Palacín 《Nature genetics》1999,23(1):52-57
824.
A I den Hollander J B ten Brink Y J de Kok S van Soest L I van den Born M A van Driel D J van de Pol A M Payne S S Bhattacharya U Kellner C B Hoyng A Westerveld H G Brunner E M Bleeker-Wagemakers A F Deutman J R Heckenlively F P Cremers A A Bergen 《Nature genetics》1999,23(2):217-221
Retinitis pigmentosa (RP) comprises a clinically and genetically heterogeneous group of diseases that afflicts approximately 1.5 million people worldwide. Affected individuals suffer from a progressive degeneration of the photoreceptors, eventually resulting in severe visual impairment. To isolate candidate genes for chorioretinal diseases, we cloned cDNAs specifically or preferentially expressed in the human retina and the retinal pigment epithelium (RPE) through a novel suppression subtractive hybridization (SSH) method. One of these cDNAs (RET3C11) mapped to chromosome 1q31-q32.1, a region harbouring a gene involved in a severe form of autosomal recessive RP characterized by a typical preservation of the para-arteriolar RPE (RP12; ref. 3). The full-length cDNA encodes an extracellular protein with 19 EGF-like domains, 3 laminin A G-like domains and a C-type lectin domain. This protein is homologous to the Drosophila melanogaster protein crumbs (CRB), and denoted CRB1 (crumbs homologue 1). In ten unrelated RP patients with preserved para-arteriolar RPE, we identified a homozygous AluY insertion disrupting the ORF, five homozygous missense mutations and four compound heterozygous mutations in CRB1. The similarity to CRB suggests a role for CRB1 in cell-cell interaction and possibly in the maintenance of cell polarity in the retina. The distinct RPE abnormalities observed in RP12 patients suggest that CRB1 mutations trigger a novel mechanism of photoreceptor degeneration. 相似文献
825.
The identification of genes that control susceptibility to testicular germ-cell tumours (TGCTs), the most common cancer affecting young men, has been difficult. In laboratory mice, TGCTs arise from primordial germ cells in only the 129 inbred strains, and susceptibility is under multigenic control. The spontaneously arising mutation Ter (ref. 5) on mouse chromosome 18 (Refs 6,7) increases TGCT frequency on a 129/Sv background. We originally used Ter in genetic crosses to identify loci that control tumorigenesis. A genome scan of tumour-bearing progeny from backcrosses between the 129/Sv-Ter/+ and MOLF/Ei strains provided modest evidence that MOLF-derived alleles on chromosome 19 enhance development of bilateral TGCTs (ref. 9). To obtain independent evidence for linkage to the MOLF chromosome, we made an autosomal chromosome substitution strain (CSS; or 'consomic strain') in which chromosome 19 of 129/Sv+/+ was replaced by its MOLF-derived homologue. The unusually high frequency of TGCTs in this CSS (even in the absence of the Ter mutation) provides evidence confirming the genome survey results, identifies linkage for a naturally occurring strain variant allele that confers susceptibility to TGCTs and illustrates the power of CSSs in complex trait analysis. 相似文献
826.
Minisatellites are tandemly repeated DNA sequences of 10-100-bp units. Some minisatellite loci are highly unstable in the human germ line, and structural analysis of mutant alleles has suggested that repeat instability results from a recombination-based process. To provide insights into the molecular mechanism of human minisatellite instability, we developed Saccharomyces cerevisiae strains carrying alleles of the most unstable human minisatellite locus, CEB1 (ref. 2). We observed that CEB1 is destabilized in meiosis, resulting in a variety of intra- and inter-allelic gains or losses of repeat units, similar to rearrangements described in humans. Using mutations affecting the initiation of recombination (spo11) or mismatch repair (msh2 pms1 ), we demonstrate that meiotic destabilization depends on the initiation of homologous recombination at nearby DNA double-strand break (DSBs) sites and involves a 'rearranged heteroduplex' intermediate. Most of the human and yeast data can be explained and unified in the context of DSB repair models. 相似文献
827.
Single linkage clusters on a set of points are the maximal connected sets in a graph constructed by connecting all points
closer than a given threshold distance. The complete set of single linkage clusters is obtained from all the graphs constructed
using different threshold distances. The set of clusters forms a hierarchical tree, in which each non-singleton cluster divides
into two or more subclusters; the runt size for each single linkage cluster is the number of points in its smallest subcluster.
The maximum runt size over all single linkage clusters is our proposed test statistic for assessing multimodality. We give
significance levels of the test for two null hypotheses, and consider its power against some bimodal alternatives.
Research partially supported by NSF Grant No. DMS-8617919. 相似文献
828.
S. Steghaus-Kovâc U. Maschwitz A. B. Attygalle R. T. S. Frighetto N. Frighetto O. Vostrowsky H. J. Bestmann 《Cellular and molecular life sciences : CMLS》1992,48(7):690-694
Behavioral tests carried out with the four stereoisomers of 4-methyl-3-heptanol revealed thatLeptogenys diminuta ants respond specifically only to the (3R, 4S)-isomer. 相似文献
829.
T. Horio Y. Kawabata T. Takayama S. Tahara J. Kawabata Y. Fukushi H. Nishimura J. Mizutani 《Cellular and molecular life sciences : CMLS》1992,48(4):410-414
A highly potent attractant of zoospores ofAphanomyces cochlioides, a causal fungus of the root rot disease of spinach (Spinacia oleracea), was isolated from spinach roots, and its structure was determined by spectroscopic evidence and chemical synthesis as cochliophilin A (5-hydroxy-6,7-methylenedioxyflavone,1). A chromosorb particle prepared by soaking in solution of1 showed a potent attracting activity toward the zoospores using concentrations of1 above 10–9 or 10–10 M. 相似文献
830.
We have studied the effects of two modulations — streptozotocin-induced diabetes in vivo, and the presence of the carboxylic proton ionophore monensin in vitro — on the degradation of3H-asialoorosomucoid ligand in isolated rat hepatocytes.The ligand was internalized by means of a synchronous wave procedure. Diabetes was associated with a marked decrease in the amount of total degraded radioactive ligand compared to that in normal cells (3.6% and 37.3% of internalized ligand respectively, at 60 min), together with increased secretion of degradation products into the incubation medium (87% and 46.3% of the total degraded ligand was secreted by diabetic and normal cells, respectively). Monensin induced similar effects in normal cells, but had no apparent effect in diabetic cells. 相似文献