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Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. 总被引:11,自引:2,他引:9
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P Hedera S Rainier D Alvarado X Zhao J Williamson B Otterud M Leppert J K Fink 《American journal of human genetics》1999,64(2):563-569
Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of disorders characterized by insidiously progressive spastic weakness in the legs. Genetic loci for autosomal dominant HSP exist on chromosomes 2p, 14q, and 15q. These loci are excluded in 45% of autosomal dominant HSP kindreds, indicating the presence of additional loci for autosomal dominant HSP. We analyzed a Caucasian kindred with autosomal dominant HSP and identified tight linkage between the disorder and microsatellite markers on chromosome 8q (maximum two-point LOD score 5.51 at recombination fraction 0). Our results clearly establish the existence of a locus for autosomal dominant HSP on chromosome 8q23-24. Currently this locus spans 6.2 cM between D8S1804 and D8S1774 and includes several potential candidate genes. Identifying this novel HSP locus on chromosome 8q23-24 will facilitate discovery of this HSP gene, improve genetic counseling for families with linkage to this locus, and extend our ability to correlate clinical features with different HSP loci. 相似文献
54.
Michael S. Engel Diying Huang Abdulaziz S. Alqarni Chenyang Cai Mabel Alvarado Laura C.V. Breitkreuz Dany Azar 《Comptes Rendus Palevol》2017,16(1):5-11
A remarkably specialized parasitoid wasp of the family Scelionidae (Platygastroidea) is described and figured from mid-Cretaceous (Cenomanian) amber of the Hukawng Valley in northern Myanmar. Geoscelio mckellari Engel and Huang, gen. et sp. nov., is unique for its combination of a compact body, 12 antennal flagellomeres, a 1-2-2 tibial spur formula, a distinct malar sulcus, deeply impressed notauli, complete reduction of the wings, and basal crenulae on the metasomal terga and sterna, among many other features, and is placed within a separate tribe, Geoscelionini Engel and Huang, trib. nov. This is the first flightless species of Platygastroidea known from the Mesozoic, and its affinities with other Mesozoic and extant lineages are discussed. 相似文献
55.
J.R. Alvarado Bremer J. Mejuto F. Boán J.M. Rodríguez T.W. Greig 《Journal of experimental marine biology and ecology》2005,327(2):167-182
In species with high migratory potential, the genetic signal revealing population differentiation is often obscured by population admixture. To our knowledge, the explicit comparison of genetic samples from known spawning and feeding areas has not been conducted for any highly migratory pelagic fish species. This study examines the geographic heterogeneity of swordfish mitochondrial DNA (mtDNA) lineages within the Atlantic Ocean using 330 base pairs of sequence of the control region from 480 individuals. Hierarchical analyses of sequence variation were conducted to test whether samples from areas identified as the corresponding spawning and feeding grounds for the northwest (NW) Atlantic (Caribbean and Georges Banks-US northeast) and the South Atlantic (Brazil-Uruguay and Gulf of Guinea), were more closely related to each other than to samples from any other region, including the Mediterranean Sea, the Indian Ocean, and the Pacific Ocean. Phylogeographic analyses reveal that swordfish mtDNA phylogeny is characterized by incomplete lineage sorting and secondary contact of two highly divergent clades. However, despite this complex phylogenetic signature, results from an analysis of nucleotide diversity and from an analysis of molecular variance (AMOVA) were for the most part concordant and indicate that NW Atlantic and South Atlantic swordfish belong to separate populations. The mtDNA distinctiveness of NW Atlantic and South Atlantic swordfish populations is indicative of philopatric behavior in swordfish towards breeding and feeding areas. 相似文献
56.
Barcodes for genomes and applications 总被引:1,自引:0,他引:1
Background
Each genome has a stable distribution of the combined frequency for each k-mer and its reverse complement measured in sequence fragments as short as 1000 bps across the whole genome, for 1<k<6. The collection of these k-mer frequency distributions is unique to each genome and termed the genome's barcode. 相似文献57.
58.
Victor Olman 《基因组蛋白质组与生物信息学报(英文版)》2009,7(4):194-199
Cellulases are important glycosyl hydrolases (GHs) that hydrolyze cellulose polymers into smaller oligosaccharides by breaking the cellulose β (1→4) bonds,and they are widely used to produce cellulosic ethanol from the plant biomass.N-linked and O-linked glycosylations were proposed to impact the catalytic efficiency,cellulose binding affinity and the stability of cellulases based on observations of individual cellulases.As far as we know,there has not been any systematic analysis of the distributions of N-... 相似文献
59.
Studies that assess the importance of riparian habitats in maintaining diversity of herpetofaunal assemblages in tropical dry forests are limited. We examined changes in abundance, diversity and composition of anuran, lizard and snake assemblages along stream edge–upslope gradients in conserved and disturbed areas of tropical dry forest on the Pacific coast of México. We sampled 659 plots in six watersheds over 2 yr. Two forest conditions (conserved and human disturbed, with three watersheds as replicates) were evaluated in the dry and rainy season. Within each watershed, plots were randomly located at three different distance categories from either stream edge: 0–10 m (near‐stream environment), 30–40 m (mid‐slope environment), and 50–60 m (upslope environment). Herpetofauna was surveyed by time‐constrained searches with a sampling effort of 1980 person‐hours. Eighteen anuran, 18 lizard and 23 snake species were recorded. Overall, abundance and diversity of lizards and snakes decreased from near‐stream to upslope areas in both forest conditions and seasons; while that of anurans followed this trend only for the conserved forest during the rainy season. Regardless of distance, abundance and diversity of anurans markedly decreased during the dry season, while that of snakes and lizards increased. Overall, our study shows that the importance of riparian areas for herpetofaunal conservation in dry tropical forests varies with forest condition and season. 相似文献
60.
Identification of genes needed for regeneration, stem cell function, and tissue homeostasis by systematic gene perturbation in planaria 总被引:1,自引:0,他引:1
Reddien PW Bermange AL Murfitt KJ Jennings JR Sánchez Alvarado A 《Developmental cell》2005,8(5):635-649
Planarians have been a classic model system for the study of regeneration, tissue homeostasis, and stem cell biology for over a century, but they have not historically been accessible to extensive genetic manipulation. Here we utilize RNA-mediated genetic interference (RNAi) to introduce large-scale gene inhibition studies to the classic planarian system. 1065 genes were screened. Phenotypes associated with the RNAi of 240 genes identify many specific defects in the process of regeneration and define the major categories of defects planarians display following gene perturbations. We assessed the effects of inhibiting genes with RNAi on tissue homeostasis in intact animals and stem cell (neoblast) proliferation in amputated animals identifying candidate stem cell, regeneration, and homeostasis regulators. Our study demonstrates the great potential of RNAi for the systematic exploration of gene function in understudied organisms and establishes planarians as a powerful model for the molecular genetic study of stem cells, regeneration, and tissue homeostasis. 相似文献