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1.
M E MacDonald A Novelletto C Lin D Tagle G Barnes G Bates S Taylor B Allitto M Altherr R Myers 《Nature genetics》1992,1(2):99-103
Analysis of 78 Huntington's disease (HD) chromosomes with multi-allele markers revealed 26 different haplotypes, suggesting a variety of independent HD mutations. The most frequent haplotype, accounting for about one third of disease chromosomes, suggests that the disease gene is between D4S182 and D4S180. However, the paucity of an expected class of chromosomes that can be related to this major haplotype by assuming single crossovers may reflect the operation of other mechanisms in creating haplotype diversity. Some of these mechanisms sustain alternative scenarios that do not require a multiple mutational origin for HD and/or its positioning between D4S182 and D4S180. 相似文献
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Normal 0 false false false EN-US X-NONE X-NONE MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin:0in; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:"Times New Roman"; mso-bidi-theme-font:minor-bidi;} In this taxonomic revision of the Nearctic flea genus Anomiopsyllus Baker morphological characters, phylogeny, affinities with other genera in the subfamily Anomiopsyllinae, evolutionary adaptations, geographic distribution, ecological parameters, and host preferences are discussed. Characters primarily associated with the male genitalia, in particular the number and placement of spiniforms on the movable process (finger) of the clasper, are used for species discrimination. A key to the males of the 15 species and subspecies is provided, including illustrations of both males and females. 相似文献
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R.S.K. Barnes 《Journal of Natural History》2018,52(1-2):87-113
Areas of the Knysna estuarine bay in the Western Cape are dominated by three endemic South African truncatelloid microgastropods, temporarily known as ‘Hydrobia’ knysnaensis (Krauss), ‘Assiminea’ capensis (Sowerby) and ‘Assiminea’ globulus Connolly. Although first described 80–170 years ago and present in abundance (up to 100,000 m?2), they remain surrounded by confusion and still await taxonomic assignment, largely because they appear most atypical members of their groups by virtue of anatomy and/or biogeography and/or habitat. This study contributes in-life perspectives to morphological and phylogenetic analyses known to be on-going. At Knysna, they are syntopic: at least two occurring in >85% and all three in >40% of individual 0.0026 m2 samples from their region of dominance. Nevertheless, they tend to greater abundance in divergent microhabitats; ‘A.’ globulus dominating higher tidal levels, and ‘A.’ capensis and ‘Hydrobia’ lower ones; the former especially unvegetated sediment, the latter, if anything, seagrass. Interspecific feeding interactions appear unlikely to be responsible for these patterns, other evidence suggesting that all are maintained below carrying capacity. Field biology of ‘H.’ knysnaensis generally appears equivalent to that of northern-hemisphere intertidal hydrobiids and that of ‘A.’ globulus is typically assimineid, albeit at atypically low shore height. Unlike assimineids, however, ‘A.’ capensis is truly aquatic. The success of these truncatelloids in unusual circumstances may be consequent on the absence from South Africa of other microgastropod groups that fill their niches elsewhere in the southern hemisphere. 相似文献
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The genetic association database 总被引:1,自引:0,他引:1
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A naturally occurring MTA1 variant sequesters oestrogen receptor-alpha in the cytoplasm 总被引:13,自引:0,他引:13
Kumar R Wang RA Mazumdar A Talukder AH Mandal M Yang Z Bagheri-Yarmand R Sahin A Hortobagyi G Adam L Barnes CJ Vadlamudi RK 《Nature》2002,418(6898):654-657
Oestrogen receptor (ER) is a good prognostic marker for the treatment of breast cancers. Upregulation of metastatic tumour antigen 1 (MTA1) is associated with the invasiveness and metastatic potential of several human cancers and acts as a co-repressor of nuclear ER-alpha. Here we identify a naturally occurring short form of MTA1 (MTA1s) that contains a previously unknown sequence of 33 amino acids with an ER-binding motif, Leu-Arg-Ile-Leu-Leu (LRILL). MTA1s localizes in the cytoplasm, sequesters ER in the cytoplasm, and enhances non-genomic responses of ER. Deleting the LRILL motif in MTA1s abolishes its co-repressor function and its interaction with ER, and restores nuclear localization of ER. Dysregulation of human epidermal growth factor receptor-2 in breast cancer cells enhances the expression of MTA1s and the cytoplasmic sequestration of ER. Expression of MTA1s in breast cancer cells prevents ligand-induced nuclear translocation of ER and stimulates malignant phenotypes. MTA1s expression is increased in human breast tumours with no or low nuclear ER. The regulation of the cellular localization of ER by MTA1s represents a mechanism for redirecting nuclear receptor signalling by nuclear exclusion. 相似文献
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Failure to confirm NOTCH4 association with schizophrenia in a large population-based sample from Scotland 总被引:1,自引:0,他引:1
McGinnis RE Fox H Yates P Cameron LA Barnes MR Gray IC Spurr NK Hurko O St Clair D 《Nature genetics》2001,28(2):128-129
The NOTCH4 gene was recently reported to be associated with schizophrenia based on TDT analysis of 80 British trios. The strongest evidence for association derived from two microsatellites. We genotyped both loci in a large sample of unrelated Scottish schizophrenics and controls, but failed to replicate the reported association, finding instead that each putative schizophrenia-associated allele had a somewhat lower frequency in schizophrenics than in controls. 相似文献
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