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61.
Lieve Vits Kristel De Boulle Edwin Reyniers Ingrid Handig John K. Darby Ben Oostra Patrick J. Willems 《Human genetics》1994,94(5):523-526
The fragile X syndrome is the result of amplification of a CGG trinucleotide repeat in the FMR1 gene and anticipation in this disease is caused by an intergenerational expansion of this repeat. Although regression of a CGG repeat in the premutation range is not uncommon, regression from a full premutation (>200 repeats) or premutation range (50–200 repeats) to a repeat of normal size (<50 repeats) has not yet been documented. We present here a family in which the number of repeats apparently regressed from approximately 110 in the mother to 44 in her daughter. Although the CGG repeat of the daughter is in the normal range, she is a carrier of the fragile X mutation based upon the segregation pattern of Xq27 markers flanking FMR1. It is unclear, however, whether this allele of 44 repeats will be stably transmitted, as the daughter has as yet no progeny. Nevertheless, the size range between normal alleles and premutation alleles overlap, a factor that complicates genetic counseling. 相似文献
62.
R. Cerf M. Ould Hénoune M. L. Ben Matti E. H. El Ousdad A. Daoudi 《Journal of biological physics》1993,19(3):223-233
A departure from single-system dynamics, that may arise in characterizing self-organized dynamics of complex systems, is dealt with by using the Karhunen-Loève expansion of the trajectory matrix to decompose an experimental signal in a sum of spectral features. For an electroencephalographic -signal, a separation of waves and extraction of additive sub-signals are achieved, each sub-signal covering a well-bounded and physiologically meaningful frequency range. From the subsignals, an attractor that vanishes on phase-randomizing the data is characterized, under conditions where none was found for the recorded signal. 相似文献
63.
R. O. Ca -nizares A. R. Domínguez L. Rivas M. C. Montes L. Travieso F. Benítez 《Biotechnology letters》1993,15(3):321-326
We have analyzed the behavior of spirulina maxima at increasing concentration of ammonium nitrogen present in swine waste when it is either growing in suspension or immobilized in polymeric supports. We compared the response of spirulina maxima growth to different concentrations of aeration stabilized swine waste (total phosphorus, ammonium nitrogen) as a way to determine the treatment efficiency of both systems. At a dilution of 50 % of swine waste, the suspended system reached the best results for biomass concentration and nutrient removal. In the immobilized system, at dilutions of 25 and 50 % of swine waste, more than 90 % ammonium nitrogen removal was obtained, and the optimal cell concentration for immobilization was 2 g/l (wet basis). 相似文献
64.
John J. McDermott 《Hydrobiologia》1993,266(1-3):15-28
The densities of nemerteans and associated fauna on a soft-bottom sampling station (27–30 m deep) in the Øresund were determined from 47 cores (each 135 cm2 in cross-section; 20 + cm deep) collected from September to December 1989; these data were compared with 14 cores taken from the same location in December 1982. Nine species of nemerteans were identified from cores and dredge samples: Palaeonemertea — Callinera-like sp.; Heteronemertea — Cerebratulus fuscus, C. marginatus, Lineus bilineatus, Micrura fasciolata, M. purpurea; Hoplonemertea — Amphiporus bioculatus, A. dissimulans, Nipponnemertes pulcher. Mean numbers of heteronemerteans were 32 and 10 m?2 in 1982 and 1989, respectively, and hoplonemerteans were 90 and 71 m?2 , respectively. Only one palaeonemertean was collected during both years. Mean densities of the dominant species, N. pulcher, were similar for the two years, 74 and 68 m?2. The dominant groups of macrofauna (n m?2) in 1989 were ostracods (1028), amphipods (618), polychaetes (514), and ophiuroids (449). Amphipods (>90% Haploops spp.) and polychaetes (at least 30 spp.) are the major potential prey for hoplonemerteans and heteronemerteans, respectively. Laboratory feeding experiments with N. pulcher revealed that it consumed amphipods (Haploops tenuis and H. tubicola) at a rate of 2.6 worm?1 d?1 during the first 12 hours, but after 36 hours and beyond the rate was maintained at approximately 0.2 worm?1 d?1. Beyond 12 hours this nemertean showed a tendancy to only partially evacuate its prey. It was demonstrated experimentally that N. pulcher has a supply of toxin capable of killing six amphipods in approximately one hour. Limited tests showed that N. pulcher fed on the cumacean Diastylis tumida, but not on the amphipod Maera loveni or the ostracod Philomedes globosus, and that Amphiporus dissimulans readily attacked Haploops spp., but not Maera or Philomedes. Although the results of laboratory experiments are tentative, they do suggest that suctorial hoplonemerteans can exert a potentially significant effect on benthic communities. Employing seven species of polychaetes as prey for Cerebratulus fuscus and Micrura fasciolata, only the latter responded positively to one of them, Glycera alba. The hermit crab Pagurus bernhardus violently rejected N. pulcher in all feeding trials. 相似文献
65.
Addition of ATP (>0.1 mM) to cultures of human breast cancer T47D cells resulted in an inhibition of cell proliferation. The inhibition was found to be specific for ATP, and dependent on its concentration. Growth inhibition continued for at least three days, although ATP and its hydrolysis products were metabolized within one day. Conditioned medium from ATP-treated cultures (CM+) was found to inhibit the growth of cells that were not exposed to ATP. This is an indication that extracellular factors, besides ATP, are involved in the inhibition process. The inhibition was maintained after dialysis of the CM+, using an 8 kDa cut-off membrane. Conditioned medium from untreated cultures (CM-), however, only slightly affected cell growth. The data suggest that the CM+ -induced cell growth inhibition is mediated by an ATP-activated growth inhibiting factor. Flow microfluorometry and thymidine incorporation experiments have shown that the growth arrest is mainly due to the elongation of the S-phase of the cell cycle. © 1993 Wiley-Liss, Inc. 相似文献
66.
Sonja Buyle Edwin Reyniers Lieve Vits Kristel De Boulle Ingrid Handig Floris L. E. Wuyts Wout Deelen Dicky J. J. Halley Ben A. Oostra Patrick J. Willems 《Human genetics》1993,92(3):269-272
For many years, the high prevalence of the fragile X syndrome was thought to be caused by a high mutation frequency. The recent isolation of the FMR1 gene and identification of the most prevalent mutation enable a more precise study of the fragile X mutation. As the vast majority of fragile X patients show amplification of an unstable trinucleotide repeat, DNA studies can now trace back the origin of the fragile X mutation. To date, de novo mutations leading to amplification of the CGG repeat have not yet been detected. Recently, linkage disequilibrium was found in the Australian and US populations between the fragile X mutation and adjacent polymorphic markers, suggesting a founder effect of the fragile X mutation. We present here a molecular study of Belgian and Dutch fragile X families. No de novo mutations could be found in 54 of these families. Moreover, we found significant (P < 0.0001) linkage disequilibrium in 68 unrelated fragile X patients between the fragile X mutation and an adjacent polymorphic microsatellite at DXS548. This suggests that a founder effect of the fragile X mutation also exists in the Belgian and Dutch populations. Both the absence of new mutations and the presence of linkage disequilibrium suggest that a few ancestral mutations are responsible for most of the patients with fragile X syndrome. 相似文献
67.
Jennifer D. Watts Mary Farina John S. Kimball Luke D. Schiferl Zhihua Liu Kyle A. Arndt Donatella Zona Ashley Ballantyne Eugénie S. Euskirchen Frans-Jan W. Parmentier Manuel Helbig Oliver Sonnentag Torbern Tagesson Janne Rinne Hiroki Ikawa Masahito Ueyama Hideki Kobayashi Torsten Sachs Daniel F. Nadeau John Kochendorfer Marcin Jackowicz-Korczynski Anna Virkkala Mika Aurela Roisin Commane Brendan Byrne Leah Birch Matthew S. Johnson Nima Madani Brendan Rogers Jinyang Du Arthur Endsley Kathleen Savage Ben Poulter Zhen Zhang Lori M. Bruhwiler Charles E. Miller Scott Goetz Walter C. Oechel 《Global Change Biology》2023,29(7):1870-1889
Arctic-boreal landscapes are experiencing profound warming, along with changes in ecosystem moisture status and disturbance from fire. This region is of global importance in terms of carbon feedbacks to climate, yet the sign (sink or source) and magnitude of the Arctic-boreal carbon budget within recent years remains highly uncertain. Here, we provide new estimates of recent (2003–2015) vegetation gross primary productivity (GPP), ecosystem respiration (Reco), net ecosystem CO2 exchange (NEE; Reco − GPP), and terrestrial methane (CH4) emissions for the Arctic-boreal zone using a satellite data-driven process-model for northern ecosystems (TCFM-Arctic), calibrated and evaluated using measurements from >60 tower eddy covariance (EC) sites. We used TCFM-Arctic to obtain daily 1-km2 flux estimates and annual carbon budgets for the pan-Arctic-boreal region. Across the domain, the model indicated an overall average NEE sink of −850 Tg CO2-C year−1. Eurasian boreal zones, especially those in Siberia, contributed to a majority of the net sink. In contrast, the tundra biome was relatively carbon neutral (ranging from small sink to source). Regional CH4 emissions from tundra and boreal wetlands (not accounting for aquatic CH4) were estimated at 35 Tg CH4-C year−1. Accounting for additional emissions from open water aquatic bodies and from fire, using available estimates from the literature, reduced the total regional NEE sink by 21% and shifted many far northern tundra landscapes, and some boreal forests, to a net carbon source. This assessment, based on in situ observations and models, improves our understanding of the high-latitude carbon status and also indicates a continued need for integrated site-to-regional assessments to monitor the vulnerability of these ecosystems to climate change. 相似文献
68.
Ben Qin 《Journal of evolutionary biology》2023,36(2):347-354
Unequal breeding sex ratio can significantly reduce effective population size, allowing a rare neutral allele to jump to a high frequency through genetic drift. However, this one-way alteration to allele frequency appears inconsistent with the concept that drift is non-directional. Based on binomial sampling distribution, this study developed a method to directly and exhaustively measure drift by calculating the mean deviation of change in allele frequency, then applied it to cases of unequal breeding sex ratio. The result shows that, under those cases, (1) the mean deviation can always be divided into two halves that are equal in size but opposite in direction; (2) each half consists of one or several categories represented by various allele proportions in the rare sex; (3) this proportion is another factor that determines the outcome of drift, in addition to effective population size and allele frequency; (4) drift is non-directional on a global scale, but whether an allele will drift up or down can be predicted based on the above factors. This method enables us to dissect every component of the expected change in allele frequency caused by drift and to find out the combined effect of population size, allele frequency and allele proportion in the rarer sex under neutrality but unequal breeding sex ratio. 相似文献
69.
Mammalian Genome - Type 2 diabetes (T2D) is a metabolic disease with an imbalance in blood glucose concentration. There are significant studies currently showing association between T2D and... 相似文献
70.
Droughts are linked to tree die-offs in the biodiverse humid tropics. We assessed drought response of a Dipterocarp Forest and found a marginal decrease in tree survival, indicating drought resistance. Understory and emergent species were sensitive to drought. Urgent focus is needed to understand drought impacts and plant physiological responses in South Asian forests. 相似文献