Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

Purpose: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial clefting disorders. Here, we compared and contrasted the frequency and distribution of exonic Mutations in interferon regulatory factor 6 between two large geographically distinct collections of families with Van der Woude and between one collection of families with popliteal pterygium syndrome. Methods: We performed direct sequence analysis of interferon regulatory factor 6 exons oil samples from three collections, two with Van der Woude and one with popliteal pterygium syndrome. Results: We identified mutations in interferon regulatory factor 6 exons in 68% of families in both Van der Woude collections and in 97% of families with popliteal pterygium syndrome. In sum, 106 novel disease-causing variants were found. The distribution of mutations in the interferon regulatory factor 6 exons in each collection was not random; exons 3, 4, 7, and 9 accounted for 80%. In the Van der Woude collections, the mutations were evenly divided between protein truncation and missense, whereas most mutations identified in the popliteal pterygium syndrome collection were missense. Further, the missense mutations associated with popliteal pterygium syndrome were localized significantly to exon 4, at residues that are predicted to bind directly to DNA. Conclusion: The nonrandom distribution of mutations in the interferon regulatory factor 6 exons suggests a two-tier approach for efficient mutation screens for interferon regulatory factor 6. The type and distribution of mutations are consistent with the hypothesis that Van der Woude is caused by haploinsufficiency of interferon regulatory factor 6. Oil the other hand, the distribution of popliteal pterygium syndrome-associated mutations suggests a different, though not mutually exclusive, effect oil interferon regulatory factor 6 function. Genet Med 2009:11(4):241-247.

Identification and expression analysis of microRNAs and targets in the biofuel crop sugarcane

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Analysis of plant LTR-retrotransposons at the fine-scale family level reveals individual molecular patterns

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Deep barcode divergence in Brazilian freshwater fishes: the case of the Sao Francisco River basin

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Spermiogenesis and spermatozoal ultrastructure in Trichomycteridae (Teleostei: Ostariophysi: Siluriformes)

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Cytogenetic Mapping of 5S and 18S rRNAs and H3 Histone Genes in 4 Ancient Proscopiidae Grasshopper Species: Contribution to Understanding the Evolutionary Dynamics of Multigene Families

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Phylogenetic relationships within the speciose family Characidae (Teleostei: Ostariophysi: Characiformes) based on multilocus analysis and extensive ingroup sampling

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Searching for larval support for majoid families (Crustacea : Brachyura) with particular reference to Inachoididae Dana, 1851

We re-evaluated the larval support for families within majoids using the Wilcoxon signed-rank test with emphasis on Inachoididae. To accomplish our objectives, we added 10 new taxa, two of which are traditionally assigned to the family of special interest, to a previous larval database for majoids, and re-appraised the larval characters used in earlier studies. Phylogenetic analysis was performed with PAUP* using the heuristic search with 50 replicates or the branch-and-bound algorithm when possible. Multi-state transformation series were considered unordered; initially characters were equally weighted followed by successive weighting, and trees were rooted at the Oregoniidae node. Ten different topological constraints were enforced for families to evaluate tree length under the assumption of monophyly for each taxonomic entity. Our results showed that the tree length of most constrained topologies was not considerably greater than that of unconstrained analysis in which most families nested as paraphyletic taxa. This may indicate that the present larval database does not provide strong support for paraphyly of the taxa in question. For Inachoididae, although the Wilcoxon signed-rank test rejected a significant difference between unconstrained and constrained cladograms, we were unable to provide a single synapomorphy for this clade. Except for the conflicting position of Leurocyclus and Stenorhynchus, the two clades correspond to the traditional taxonomic arrangement. Among inachoidids, the clade (Anasimus (Paradasygyius (Collodes + Pyromaia))) is supported, whereas for inachids, the clade (Inachus (Macropodia + Achaeus)) is one of the most supported clades within majids. As often stated, only additional characters will provide a better test for the monophyly of Inachoididae and other families within Majoidea.

Chromosomal organization of the 18S and 5S rRNAs and histone H3 genes in Scarabaeinae coleopterans: insights into the evolutionary dynamics of multigene families and heterochromatin

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

The shared influence of phylogeny and ecology on the reproductive patterns of Myrteae (Myrtaceae)

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Vascular flora of Serra do Japi Biological Reserve, Jundiaí, southeastern Brazil

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Fish community alterations due to pollution and damming in Tiete and Paranapanema rivers (Brazil)

The Tiete River crosses the metropolitan region of São Paulo (Brazil) and receives a large amount of pollution, in contrast to Paranapanema River which runs in a less populated area. In the inferior portions of the basins of these rivers, a series of reservoirs has been built for hydroelectric energy generation which improve the water quality due to the decantation of suspended soils and aeration in the water spills.Twenty-nine sampling sites were established along the two rivers and in each sampling site, two groups of eight gillnets were used with standardized sizes in two seasons: winter (dry season: June-September 1994) and summer (rainy season: December-March 1995). The fishes were measured and weighed.Twenty-five parameters related. to the water were recorded. PCA and cluster analysis helped to identify two groups of sampling sites. The first one corresponds to the rainy season samples, while the second corresponds to the dry season samples, so evidencing strong seasonal environmental variation. However, the dry season group is still divided into polluted and non-polluted sites, showing that during drought there are larger effects of pollutant concentration due to the decreased flow.A total of 415 kg of fish were caught, corresponding to 8324 individuals belonging to 64 different species, in 22 families and four orders of Teleostei. The largest catches occurred in the middle Tiete River. The catches in the reservoirs of the Tiete River, during the rainy season are superior to those of the dry season. on the other hand, sampling sites located in running water presented an inverse pattern with the largest catches in the dry-season. In river Paranapanema, catches are lower than in the Tiete River, except in Rosana Reservoir during the rainy season. Fish diversity was shown to be a good-indicator of environmental stress. In Tiete River an expressive fall in species richness was detected in the polluted stretches, with dominance of one or two species. In the intermediary stretches, the presence of rapids increases the amount of dissolved oxygen, allowing the development of the most abundant and diverse fish community of the river. Fish communities in the reservoirs of the inferior stretch of Tiete River are more diverse. on the other hand, the damming of the superior reaches of Paranapanema River provoked a decrease in diversity. 0 the whole, types of local fish communities detected, showing different compositions and specific abundances, revealed different ecological situations. A discriminant analysis revealed that the parameters of the water influencing the fish community were: dissolved oxygen, conductivity, nitrogen (nitrate, ammoniacal and albuminoid), phosphate, alkalinity, hardness and iron. Copyright (C) 2003 John Wiley Sons, Ltd.

Analysis of a hyper-diverse seed dispersal network: modularity and underlying mechanisms

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Phylogenetic signal and variation of visceral pigmentation in eight anuran families

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

ON THREE-PARAMETER FAMILIES of FILIPPOV SYSTEMS - THE FOLD-SADDLE SINGULARITY

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)