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61.
We have examined seven pedigrees that include individuals with a recently described X-linked form of severe mental retardation associated with alpha-thalassemia (ATR-X syndrome). Using hematologic and molecular approaches, we have shown that intellectually normal female carriers of this syndrome may be identified by the presence of rare cells containing HbH inclusions in their peripheral blood and by an extremely skewed pattern of X inactivation seen in cells from a variety of tissues. Linkage analysis has localized the ATR-X locus to an interval of approximately 11 cM between the loci DXS106 and DXYS1X (Xq12-q21.31), with a peak LOD score of 5.4 (recombination fraction of 0) at DXS72. These findings provide the basis for genetic counseling, assessment of carrier risk, and prenatal diagnosis of the ATR-X syndrome. Furthermore, they represent an important step in developing strategies to understand how the mutant ATR-X allele causes mental handicap, dysmorphism, and down-regulation of the alpha-globin genes.  相似文献   
62.
Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome   总被引:10,自引:2,他引:8  
Summary Hunter syndrome is a human X-linked disorder caused by deficiency of the lysosomal exohydrolase iduronate-2-sulphatase (IDS). The consequent accumulation of the mucopolysaccharides dermatan sulphate and heparan sulphate, in the brain and other tissues, often results in death before adulthood. There is, however, a broad spectrum of severity that has been attributed to different mutations of the Hunter syndrome gene. We have used an IDS cDNA clone to localise the IDS gene to Xq28, distal to the fragile X mutation (FRAXA). One-third of Hunter syndrome patients had various deletions or rearrangements of their IDS gene, proving that different mutations are common in this condition. Deletions of the IDS gene can include a conserved locus that is tightly linked to FRAXA, suggesting that deletion of nearby genes may contribute to the variable clinical severity noted in Hunter syndrome. The cDNA clone was also shown to span the X chromosome breakpoint in a female Hunter syndrome patient with an X;autosome translocation.  相似文献   
63.
Lateralization of syringeal function during song production in the canary   总被引:1,自引:0,他引:1  
The canary (Serinus canaria) vocal organ, the syrinx, has two separate sound sources, one in the cranial end of each bronchus. Previous investigations of whether song syllables are produced unilaterally or bilaterally have provided two contradictory results, as one researcher suggested that almost all syllables are produced by the left side of the syrinx alone, whereas another researcher suggested that both sides contribute similarly to all syllables. Our experiments, which involved unilateral bronchus plugging followed later by denervation of the ipsilateral syringeal muscles, attempted to resolve this disagreement. The males with right bronchus plugs, singing on the left side of the syrinx alone, produced nearly normal songs, whereas the birds with left bronchus plugs, singing on the right side, sang quite poorly. Interpretation of these data is difficult because it is not clear how syringeal function would be affected if the airflow rate through the intact side is increased above normal, nor is it known if the bird can compensate for bronchus occlusion. Nonetheless, we suggest that in male canaries most syllables are normally sung by the left side alone, with some syllables being produced by the right side alone and some being sung by both sides together. Right nerve section had little effect on the right-bronchus-plugged males' ability to sing, but the repertoires of the left-plugged males were altered after left nerve section, indicating the possibility that signals carried by the left nerve exert an influence on the contralateral side.  相似文献   
64.
Hannah Bonsey Suthers 《Planta》1978,138(3):295-297
A rapid method is described of obtaining callus tissue cultures from hypocotyls of vegetative and flowering Xanthium strumarium L. seedlings. The tissue is grown on Murashige and Skoog medium modified with 1 g/l casein hydrolysate and 5 mg/l each of kinetin and -napthaleneacetic acid.  相似文献   
65.
Artificial reefs provide shelter and can be an important source of food for fish depending on the epibenthic community on the structure. The growth and diversity of this community is influenced by the substratum material and the surface orientation of the reef. Settlement plates of four materials (Perspex, sandstone, wood and steel) were deployed in three orientations (upwards, downwards and vertical) at a depth of 33 m on a designed artificial reef (DAR) off the coast of Sydney, Australia. After three months, the steel surfaces had lower invertebrate species richness, total abundance and diversity compared to other surfaces. Steel was not an ideal material for the initial recruitment and growth of epibenthic invertebrates. A longer duration would be required to develop a mature epibenthic community. Surface orientation had species-specific impacts. Surface material and orientation are important factors for developing epibenthic assemblages, and are thus likely to affect the broader artificial reef assemblage, including fish.  相似文献   
66.
Knowledge of the influence of both spatial and temporal environmental gradients on life history traits and population demographics is a critical requirement in the management of exploited fish populations. This study examined variation in the demographics of Arripis trutta, an economically-important pelagic fish species with a broad latitudinal distribution in the waters of coastal south-eastern (SE) Australia, a region dominated by the influence of the East Australian Current (EAC). A validated ageing protocol was first developed using sectioned sagittal otoliths, which in turn permitted examination of latitudinal variation in A. trutta growth, size compositions and age compositions. The von Bertalanffy growth function parameters for A. trutta in SE Australia were estimated to be L ?=?63.20?±?0.37 cm fork length (FL), k?=?0.26?±?0.01 yr?1 and t o?=??0.14?±?0.03 yr, with a maximum estimated age of 12.7 years. Growth was shown to be faster with decreasing latitude likely due to a simple relationship with the latitudinal gradient in water temperature; fastest growth occurring in northern NSW and slowest growth occurring in Tasmania. Latitudinal patterns in growth were remarkably similar to those previously reported for this species, despite age being estimated using scale readings some 40 years ago. This consistency in latitudinal growth patterns of a temperate fish can be attributed to the life history-related movements undertaken by A. trutta in this region. This temporally-consistent movement pattern is supported by the spatial gradient in the size and age composition of A. trutta sampled from different latitudes in both the current and historical research, whereby numbers of large and old fish increase progressively from Tasmania to northern NSW. These results highlight the need to consider the potential for spatial size- or age-structuring in the development of sampling designs and interpretation of results for any study examining spatial or temporal variation in demographic parameters of exploited fish populations.  相似文献   
67.
Recent studies on several species of oscine songbirds show that they achieve their varied vocal performances through coordinated activity of respiratory, syringeal, and other vocal tract muscles in ways that take maximum advantage of the acoustic flexibility made possible by the presence of two independently controlled sound sources in their bipartite syrinx (vocal organ). During song, special motor programs to respiratory muscles alter the pattern of ventilation to maintain the supply of respiratory air and oxygen to permit songs of long duration, high syllable repetition rates, or maximum spectral complexity. Each side of the syrinx receives its own motor program that, together with that sent to respiratory muscles, determines the acoustic properties of the ipsilaterally produced sound. The acoustic expression of these bilaterally distinct, phonetic motor patterns depends on the action of dorsal syringeal adductor muscles that, by opening or closing the ipsilateral side of the syrinx to airflow, determine the amount each side contributes to song. The syringeally generated sound is further modified by muscles that control the shape of the vocal tract. Different species have adopted different motor strategies that use the left and right sides of the syrinx in patterns of unilateral, bilateral, alternating, or sequential phonation to achieve the differing temporal and spectral characteristics of their songs. As a result, the degree of song lateralization probably varies between species to form a continuum from unilateral dominance to bilateral equality. © 1997 John Wiley & Sons, Inc. J Neurobiol 33: 632–652, 1997  相似文献   
68.
Consumption is the basis of metabolic and trophic ecology and is used to assess an animal''s trophic impact. The contribution of activity to an animal''s energy budget is an important parameter when estimating consumption, yet activity is usually measured in captive animals. Developments in telemetry have allowed the energetic costs of activity to be measured for wild animals; however, wild activity is seldom incorporated into estimates of consumption rates. We calculated the consumption rate of a free‐ranging marine predator (yellowtail kingfish, Seriola lalandi) by integrating the energetic cost of free‐ranging activity into a bioenergetics model. Accelerometry transmitters were used in conjunction with laboratory respirometry trials to estimate kingfish active metabolic rate in the wild. These field‐derived consumption rate estimates were compared with those estimated by two traditional bioenergetics methods. The first method derived routine swimming speed from fish morphology as an index of activity (a “morphometric” method), and the second considered activity as a fixed proportion of standard metabolic rate (a “physiological” method). The mean consumption rate for free‐ranging kingfish measured by accelerometry was 152 J·g−1·day−1, which lay between the estimates from the morphometric method (μ = 134 J·g−1·day−1) and the physiological method (μ = 181 J·g−1·day−1). Incorporating field‐derived activity values resulted in the smallest variance in log‐normally distributed consumption rates (σ = 0.31), compared with the morphometric (σ = 0.57) and physiological (σ = 0.78) methods. Incorporating field‐derived activity into bioenergetics models probably provided more realistic estimates of consumption rate compared with the traditional methods, which may further our understanding of trophic interactions that underpin ecosystem‐based fisheries management. The general methods used to estimate active metabolic rates of free‐ranging fish could be extended to examine ecological energetics and trophic interactions across aquatic and terrestrial ecosystems.  相似文献   
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