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61.
Anderson BH Kasher PR Mayer J Szynkiewicz M Jenkinson EM Bhaskar SS Urquhart JE Daly SB Dickerson JE O'Sullivan J Leibundgut EO Muter J Abdel-Salem GM Babul-Hirji R Baxter P Berger A Bonafé L Brunstom-Hernandez JE Buckard JA Chitayat D Chong WK Cordelli DM Ferreira P Fluss J Forrest EH Franzoni E Garone C Hammans SR Houge G Hughes I Jacquemont S Jeannet PY Jefferson RJ Kumar R Kutschke G Lundberg S Lourenço CM Mehta R Naidu S Nischal KK Nunes L Ounap K Philippart M Prabhakar P Risen SR 《Nature genetics》2012,44(3):338-342
Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous γH2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the α-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-α primase, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity. 相似文献
62.
Panizzi JR Becker-Heck A Castleman VH Al-Mutairi DA Liu Y Loges NT Pathak N Austin-Tse C Sheridan E Schmidts M Olbrich H Werner C Häffner K Hellman N Chodhari R Gupta A Kramer-Zucker A Olale F Burdine RD Schier AF O'Callaghan C Chung EM Reinhardt R Mitchison HM King SM Omran H Drummond IA 《Nature genetics》2012,44(6):714-719
Cilia are essential for fertilization, respiratory clearance, cerebrospinal fluid circulation and establishing laterality. Cilia motility defects cause primary ciliary dyskinesia (PCD, MIM244400), a disorder affecting 1:15,000-30,000 births. Cilia motility requires the assembly of multisubunit dynein arms that drive ciliary bending. Despite progress in understanding the genetic basis of PCD, mutations remain to be identified for several PCD-linked loci. Here we show that the zebrafish cilia paralysis mutant schmalhans (smh(tn222)) encodes the coiled-coil domain containing 103 protein (Ccdc103), a foxj1a-regulated gene product. Screening 146 unrelated PCD families identified individuals in six families with reduced outer dynein arms who carried mutations in CCDC103. Dynein arm assembly in smh mutant zebrafish was rescued by wild-type but not mutant human CCDC103. Chlamydomonas Ccdc103/Pr46b functions as a tightly bound, axoneme-associated protein. These results identify Ccdc103 as a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated. 相似文献
63.
64.
Christine A. Howell Julian K. Wood Mark D. Dettling Kenneth Griggs Codie C. Otte Linette Lina Thomas Gardali 《西北部美国博物学家》2011,70(1)
The Least Bell’s Vireo ( Vireo bellii pusillus ) was listed as state endangered in 1980 and federally endangered in 1986 in response to a sharp population decline and range reduction. This vireo commonly bred in riparian forests throughout the Central Valley of California, but prior to 2005, no nesting pairs had been confirmed in the region in over 50 years. On 29 June 2005, a Least Bell’s Vireo nest was located in a 3-year-old riparian restoration site at the San Joaquin River National Wildlife Refuge in Stanislaus County, California. In 2006, a Least Bell’s Vireo pair returned to the refuge to successfully breed, followed by an unsuccessful attempt in 2007 by an unpaired female. These records are approximately 350 km from the nearest known breeding population and appear to be part of a growing number of sightings outside of the species’ current southern California breeding range. These nesting attempts lend credence to the idea that extirpated species can recolonize restored habitat by long-distance dispersal. 相似文献
65.
The purpose of this study was to determine whether the western rattlesnake ( Crotalus viridis ) aims its predatory strike at the head/thorax region of mice primarily on the basis of cues related to the direction of prey movement. We hypothesized that when rattlesnakes strike at anesthetized, backward-moving mice, most strikes would be aimed at the forward-most-moving region, i.e., the posterior (abdomen/tail) region of prey. However, most mice were struck in the anterior (head/thorax) region, implying that the visual-infrared image of mice, rather than directional movement, guides the aim of predatory strikes. 相似文献
66.
Two endemic locoweeds of Washington County, Utah, Astragalus holmgreniorum and A. ampullarioides , were recently listed as federally endangered plant species (Federal Register 2001). They both occur in few, small populations surrounded by increasing human activity in the St. George, Utah, area. Demographic and habitat studies have been ongoing since 1992 and results of those studies are presented here. Astragalus holmgreniorum (Holmgren locoweed) is presently limited to 1 larger population and 2 smaller, isolated populations on the eastern and western edges of its range. It is a short-lived perennial that grows primarily on the Virgin limestone member of the Moenkopi Formation. Density of A. holmgreniorum over the 10-year study averaged about 2 plants per m 2 . The number of living plants of this species perhaps never exceeds 10,000. In drought years A. holmgreniorum populations are as much as 95% smaller than in years with adequate water, and few plants produce flowers that successfully contribute to the seed bank. Astragalus ampullarioides (Shivwits locoweed) occurs in 4 populations where plant density fluctuated between 0.5 and 4.8 per m 2 during our study period (average = 2.6). This locoweed is restricted to clay soils of the Chinle Formation. Direct threats to both Astragalus species include widespread urbanization, road construction, population fragmentation, and off-highway vehicle use. Indirect threats include competition from aggressive, introduced annual species such as Bromus rubens, B. tectorum, Malcolmia africana , and Erodium cicutarium . Our data show that 3 of 4 species most closely associated with these Astragalus species are introduced. Studies of seed banks and reproduction biology, as well as continued monitoring of these Astragalus species, are critically needed. Studies of the consequences of competition from alien and native species on seedling establishment of these locoweeds are especially needed. 相似文献
67.
Kane Lake Cirque lies in the western Pioneer Mountains of south central Idaho. An inventory of the high elevation flora of the cirque revealed the presence of 180 vascular taxa representing 95 genera and 30 families. Five alpine taxa are here documented from Idaho for the first time: Carex incurviformis Mack., Draba fladnizensis Wilfen., Potentilla nivea L., Ranunculus gelidus Kar. & Kir., and Ranunculus pygmaeus Wahlenb. Kane Lake Cirque also contains populations of four additional alpine taxa considered to be of conservation concern in Idaho: Erigeron humilis Graham, Parnassia kotzebuei Cham., Saxifraga adscendens L., and Saxifraga cernua L. 相似文献
68.
The male epiprocts of 2 closely related western Nearctic species, Sweltsa fidelis (Banks) and S. revelstoka (Jewett), were examined using SEM. The males of these 2 species have been historically distinguished by epiproct measurements. The ratio of the length of the base to greatest width versus total epiproct length ranges from 0.49 μm to 0.67 μm ( ̄ x = 0.56) in S. fidelis and 0.55 μm to 0.69 μm ( ̄ x = 0.60) in S. revelstoka . Similarities in measurement suggest that the location of the greatest epiproct width is not a reliable and consistent character for distinguishing males of these 2 species. 相似文献
69.
Since Euro-American settlement, fire exclusion and other factors have dramatically altered interior western coniferous forests. Once open and parklike, present-day structure in many southwestern Pinus ponderosa forests consists of dense stands of young, small-diameter trees, with small patches of larger, old trees, and relict open bunchgrass areas. Our objectives were to assess differences in soil properties associated with these different vegetation patches. We examined soil morphological characteristics, pH, organic C concentration, total N concentration, C:N ratio, and phytolith concentration from profiles within 6 transects (18 soil pedons) crossing patches of dense stands of small diameter trees, patches of old-growth trees, and open grassy areas. Results indicate that old-growth plots had significantly lower A horizon pH and thicker O horizons than grass plots. In general, we found vegetation patches had statistically similar C and N concentrations and C:N ratios for A and B horizons; however, C in the A horizon was positively correlated with O horizon accumulation ( r 2 = 0.79). Greater accumulation of organic C in the A horizon of forested areas contrasts with commonly reported results from mesic, mid-continental prairie-forest ecosystems but is typical for many arid, semiarid, and humid savanna ecosystems. Phytolith concentration was similar among old-growth pine, dense younger pine, and open grassy plots; the lack of a spatial pattern in phytolith distribution could indicate that grass cover was more spatially continuous in the past. Additionally, this interpretation is consistent with current theories regarding historical vegetation change in these forests. 相似文献
70.
The height of oak ( Quercus gambelii Nutt.) stems was measured on several fire scars within the Uinta National Forest and vicinity and compared with the height of oak stems on adjacent, nonburned areas. A significant relationship exists between the recovery rate of oak after fire and elevation, with the recovery rate being greatest at low elevations. A trend also exists showing that recovery tends to be greater on south to westerly exposures than on north to easterly exposures. 相似文献