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81.
Enard W Przeworski M Fisher SE Lai CS Wiebe V Kitano T Monaco AP Pääbo S 《Nature》2002,418(6900):869-872
Language is a uniquely human trait likely to have been a prerequisite for the development of human culture. The ability to develop articulate speech relies on capabilities, such as fine control of the larynx and mouth, that are absent in chimpanzees and other great apes. FOXP2 is the first gene relevant to the human ability to develop language. A point mutation in FOXP2 co-segregates with a disorder in a family in which half of the members have severe articulation difficulties accompanied by linguistic and grammatical impairment. This gene is disrupted by translocation in an unrelated individual who has a similar disorder. Thus, two functional copies of FOXP2 seem to be required for acquisition of normal spoken language. We sequenced the complementary DNAs that encode the FOXP2 protein in the chimpanzee, gorilla, orang-utan, rhesus macaque and mouse, and compared them with the human cDNA. We also investigated intraspecific variation of the human FOXP2 gene. Here we show that human FOXP2 contains changes in amino-acid coding and a pattern of nucleotide polymorphism, which strongly suggest that this gene has been the target of selection during recent human evolution. 相似文献
82.
Siddiqui MR Meisner S Tosh K Balakrishnan K Ghei S Fisher SE Golding M Shanker Narayan NP Sitaraman T Sengupta U Pitchappan R Hill AV 《Nature genetics》2001,27(4):439-441
Leprosy, a chronic infectious disease caused by Mycobacterium leprae, is prevalent in India, where about half of the world's estimated 800,000 cases occur. A role for the genetics of the host in variable susceptibility to leprosy has been indicated by familial clustering, twin studies, complex segregation analyses and human leukocyte antigen (HLA) association studies. We report here a genetic linkage scan of the genomes of 224 families from South India, containing 245 independent affected sibpairs with leprosy, mainly of the paucibacillary type. In a two-stage genome screen using 396 microsatellite markers, we found significant linkage (maximum lod score (MLS) = 4.09, P < 2x10-5) on chromosome 10p13 for a series of neighboring microsatellite markers, providing evidence for a major locus for this prevalent infectious disease. Thus, despite the polygenic nature of infectious disease susceptibility, some major, non-HLA-linked loci exist that may be mapped through obtainable numbers of affected sibling pairs. 相似文献
83.
Bouquet F Marcenat C Steep E Calemczuk R Kwok WK Welp U Crabtree GW Fisher RA Phillips NE Schilling A 《Nature》2001,411(6836):448-451
A magnetic field penetrates a superconductor through an array of 'vortices', each of which carries one quantum of flux that is surrounded by a circulating supercurrent. In this vortex state, the resistivity is determined by the dynamical properties of the vortex 'matter'. For the high-temperature copper oxide superconductors (see ref.1 for a theoretical review), the vortex phase can be a 'solid', in which the vortices are pinned, but the solid can 'melt' into a 'liquid' phase, in which their mobility gives rise to a finite resistance. (This melting phenomenon is also believed to occur in conventional superconductors, but in an experimentally inaccessible part of the phase diagram.) For the case of YBa2Cu3O7, there are indications of the existence of a critical point, at which the character of the melting changes. But neither the thermodynamic nature of the melting, nor the phase diagram in the vicinity of the critical point, has been well established. Here we report measurements of specific heat and magnetization that determine the phase diagram in this material to 26 T, well above the critical point. Our results reveal the presence of a reversible second-order transition above the critical point. An unusual feature of this transition-namely, that the high-temperature phase is the less symmetric in the sense of the Landau theory-is in accord with theoretical predictions of a transition to a second vortex-liquid phase. 相似文献
84.
Serious, and occasionally fatal, anaphylactic-like (anaphylactoid) reactions may occur when a patient is exposed to a drug for the first time. Apart from the penicillins, nothing is known of the nature of antigenic or sensitizing drug determinants and, as yet, there is no evidence for the involvement of IgE antibodies in most drug reactions. Muscle relaxants such as alcuronium have been implicated in many life-threatening anaphylactoid reactions but the mechanisms remain unclear. We have now investigated the possibility that drug-specific IgE antibodies are involved by using an alcuronium-carrier complex in a radioimmunoassay with patients' sera. Alcuronium-reactive antibodies were found in five drug-sensitive subjects and most of the antibodies cross-reacted with other muscle relaxants and with a variety of apparently structurally unrelated drugs. Structure-activity studies designed to explore the molecular basis of the antibody binding established that quaternary and tertiary ammonium ions were the complementary allergenic sites on the reactive drugs. These structures occur widely in many drugs but also in foods, cosmetics, disinfectants and industrial materials. Hence, there would seem to be ample opportunity for sensitive individuals to come into contact with and synthesize IgE antibodies to these unusual, and previously unsuspected, antigenic determinants. 相似文献
85.
86.
Inactivation of the mouse melanocortin-3 receptor results in increased fat mass and reduced lean body mass 总被引:31,自引:0,他引:31
Chen AS Marsh DJ Trumbauer ME Frazier EG Guan XM Yu H Rosenblum CI Vongs A Feng Y Cao L Metzger JM Strack AM Camacho RE Mellin TN Nunes CN Min W Fisher J Gopal-Truter S MacIntyre DE Chen HY Van der Ploeg LH 《Nature genetics》2000,26(1):97-102
Genetic and pharmacological studies have defined a role for the melanocortin-4 receptor (Mc4r) in the regulation of energy homeostasis. The physiological function of Mc3r, a melanocortin receptor expressed at high levels in the hypothalamus, has remained unknown. We evaluated the potential role of Mc3r in energy homeostasis by studying Mc3r-deficient (Mc3r(-/-)) mice and compared the functions of Mc3r and Mc4r in mice deficient for both genes. The 4-6-month Mc3r-/- mice have increased fat mass, reduced lean mass and higher feed efficiency than wild-type littermates, despite being hypophagic and maintaining normal metabolic rates. (Feed efficiency is the ratio of weight gain to food intake.) Consistent with increased fat mass, Mc3r(-/-) mice are hyperleptinaemic and male Mc3r(-/-) mice develop mild hyperinsulinaemia. Mc3r(-/-) mice did not have significantly altered corticosterone or total thyroxine (T4) levels. Mice lacking both Mc3r and Mc4r become significantly heavier than Mc4r(-/-) mice. We conclude that Mc3r and Mc4r serve non-redundant roles in the regulation of energy homeostasis. 相似文献
87.
Hydrothermal fluid circulation within the sea floor profoundly influences the physical, chemical and biological state of the crust and the oceans. Circulation within ridge flanks (in crust more than 1 Myr old) results in greater heat loss and fluid flux than that at ridge crests and persists for millions of years, thereby altering the composition of the crust and overlying ocean. Fluid flow in oceanic crust is, however, limited by the extent and nature of the rock's permeability. Here we demonstrate that the global data set of borehole permeability measurements in uppermost oceanic crust defines a trend with age that is consistent with changes in seismic velocity. This trend-which indicates that fluid flow should be greatly reduced in crust older than a few million years-would appear to be inconsistent with heat-flow observations, which on average indicate significant advective heat loss in crust up to 65 Myr old. But our calculations, based on a lateral flow model, suggest that regional-scale permeabilities are much higher than have been measured in boreholes. These results can be reconciled if most of the fluid flow in the upper crust is channelized through a small volume of rock, influencing the geometry of convection and the nature of fluid-rock interaction. 相似文献
88.
Longevity record for deep-sea invertebrate 总被引:3,自引:0,他引:3
89.
Early human use of marine resources and pigment in South Africa during the Middle Pleistocene 总被引:1,自引:0,他引:1
Marean CW Bar-Matthews M Bernatchez J Fisher E Goldberg P Herries AI Jacobs Z Jerardino A Karkanas P Minichillo T Nilssen PJ Thompson E Watts I Williams HM 《Nature》2007,449(7164):905-908
Genetic and anatomical evidence suggests that Homo sapiens arose in Africa between 200 and 100 thousand years (kyr) ago, and recent evidence indicates symbolic behaviour may have appeared approximately 135-75 kyr ago. From 195-130 kyr ago, the world was in a fluctuating but predominantly glacial stage (marine isotope stage MIS6); much of Africa was cooler and drier, and dated archaeological sites are rare. Here we show that by approximately 164 kyr ago (+/-12 kyr) at Pinnacle Point (on the south coast of South Africa) humans expanded their diet to include marine resources, perhaps as a response to these harsh environmental conditions. The earliest previous evidence for human use of marine resources and coastal habitats was dated to approximately 125 kyr ago. Coincident with this diet and habitat expansion is an early use and modification of pigment, probably for symbolic behaviour, as well as the production of bladelet stone tool technology, previously dated to post-70 kyr ago. Shellfish may have been crucial to the survival of these early humans as they expanded their home ranges to include coastlines and followed the shifting position of the coast when sea level fluctuated over the length of MIS6. 相似文献
90.