Fraser Brockington
Ontology highlight
ABSTRACT:
SUBMITTER: Bullamore T
PROVIDER: S-EPMC548782 | biostudies-literature | 2005 Feb
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:Using cutting-edge approaches to live imaging, Scott Fraser captures the dynamics of development.
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Project description:A comprehensive, accurate, and revisable alpha taxonomy is crucial for biodiversity studies, but is challenging when data from reference specimens are difficult to collect or observe. However, recent technological advances can overcome some of these challenges. To illustrate this, we used modern approaches to tackle a centuries-old taxonomic enigma presented by Fraser's Clawed Frog, Xenopus fraseri, including whether X. fraseri is different from other species, and if so, where it is situated geographically and phylogenetically. To facilitate these inferences, we used high-resolution techniques to examine morphological variation, and we generated and analyzed complete mitochondrial genome sequences from all Xenopus species, including >150-year-old type specimens. Our results demonstrate that X. fraseri is indeed distinct from other species, firmly place this species within a phylogenetic context, and identify its minimal geographic distribution in northern Ghana and northern Cameroon. These data also permit novel phylogenetic resolution into this intensively studied and biomedically important group. Xenopus fraseri was formerly thought to be a rainforest endemic placed alongside species in the amieti species group; in fact this species occurs in arid habitat on the borderlands of the Sahel, and is the smallest member of the muelleri species group. This study illustrates that the taxonomic enigma of Fraser's frog was a combined consequence of sparse collection records, interspecies conservation and intraspecific polymorphism in external anatomy, and type specimens with unusual morphology.
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Project description:This study presents a chromosome-level, near-complete genome assembly of Thalia dealbata (Marantaceae), a typical emergent wetland plant with high ornamental and environmental value. Based on 36.99 Gb PacBio HiFi reads and 39.44 Gb Hi-C reads, we obtained a 255.05 Mb assembly, of which 251.92 Mb (98.77%) were anchored into eight pseudo-chromosomes. Five pseudo-chromosomes were completely assembled, and the other three had one to two gaps. The final assembly had a high contig N50 value (29.80 Mb) and benchmarking universal single-copy orthologs (BUSCO) recovery score (97.52%). The T. dealbata genome had 100.35 Mb repeat sequences, 24,780 protein-coding genes, and 13,679 non-coding RNAs. Phylogenetic analysis revealed that T. dealbata was closest to Zingiber officinale, whose divergence time was approximately 55.41 million years ago. In addition, 48 and 52 significantly expanded and contracted gene families were identified within the T. dealbata genome. Moreover, 309 gene families were specific to T. dealbata, and 1,017 genes were positively selected. The T. dealbata genome reported in this study provides a valuable genomic resource for further research on wetland plant adaptation and the genome evolution dynamics. This genome is also beneficial for the comparative genomics of Zingiberales species and flowering plants.
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Project description:The Fraser Health heart function clinics explored patient satisfaction using a survey with the goal of understanding and improving care and service delivery. Data were collected from 124 respondents at 3 ambulatory care sites in the region. Patient satisfaction scores were high, with an average score of 8.85 out of 10 and 95% of respondents rating the service higher than 6 out of 10. The results highlighted the importance of multidisciplinary teams, good communication, adequate information, and emphasis on how a patient is treated. The patient's understanding of the information provided and of their heart health treatment plan were identified as two areas that require greater awareness.
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Project description:Hordeum vulgare cultivar:CDC Fraser Genome sequencing
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Project description:Fraser syndrome (FS) involves multiple malformations and has a 25% recurrence risk among siblings. However, these malformations are difficult to detect prenatally, hampering prenatal diagnosis. Here, we describe a fetus with FS diagnosed using ultrasonography. Ultrasonography revealed congenital high airway obstruction syndrome and renal agenesis. Syndactyly of both hands and cryptophthalmos were noted postnatally, and the diagnosis was confirmed by genetic analysis, which showed novel compound heterozygous variants of FREM2.
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Project description:Deficiency of the extracellular matrix molecule FRAS1, normally expressed by the ureteric bud, leads to bilateral renal agenesis in humans with Fraser syndrome and blebbed (Fras1(bl/bl)) mice. The metanephric mesenchyme of these mutants fails to express sufficient Gdnf, which activates receptor tyrosine kinase (RTK) signalling, contributing to the phenotype. To determine whether modulating RTK signalling may overcome the abnormal nephrogenesis characteristic of Fraser syndrome, we introduced a single null Sprouty1 allele into Fras1(bl/bl) mice, thereby reducing the ureteric bud's expression of this anti-branching molecule and antagonist of RTK signalling. This prevented renal agenesis in Fras1(bl/bl) mice, permitting kidney development and postnatal survival. We found that fibroblast growth factor (FGF) signalling contributed to this genetic rescue, and exogenous FGF10 rescued defects in Fras1(bl/bl) rudiments in vitro. Whereas wild-type metanephroi expressed FRAS1 and the related proteins FREM1 and FREM2, FRAS1 was absent and the other proteins were downregulated in rescued kidneys, consistent with a reciprocally stabilized FRAS1/FREM1/FREM2 complex. In addition to contributing to knowledge regarding events during nephrogenesis, the demonstrated rescue of renal agenesis in a model of a human genetic disease raises the possibility that enhancing growth factor signaling might be a therapeutic approach to ameliorate this devastating malformation.
| S-EPMC3482732 | biostudies-literature
Project description:Fraser syndrome (FS) is a phenotypically variable, autosomal recessive disorder characterized by cryptophthalmus, cutaneous syndactyly, and other malformations resulting from mutations in FRAS1, FREM2, and GRIP1. Transient embryonic epidermal blistering causes the characteristic defects of the disorder. Fras1, Frem1, and Frem2 form the extracellular Fraser complex, which is believed to stabilize the basement membrane. However, several cases of FS could not be attributed to mutations in FRAS1, FREM2, or GRIP1, and FS displays high clinical variability, suggesting that there is an additional genetic, possibly modifying contribution to this disorder. An extracellular matrix protein containing VWA-like domains related to those in matrilins and collagens (AMACO), encoded by the VWA2 gene, has a very similar tissue distribution to the Fraser complex proteins in both mouse and zebrafish. Here, we show that AMACO deposition is lost in Fras1-deficient zebrafish and mice and that Fras1 and AMACO interact directly via their chondroitin sulfate proteoglycan (CSPG) and P2 domains. Knockdown of vwa2, which alone causes no phenotype, enhances the phenotype of hypomorphic Fras1 mutant zebrafish. Together, our data suggest that AMACO represents a member of the Fraser complex.
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Project description:Aberrant splicing is a major cause of rare diseases. However, its prediction from genome sequence alone remains in most cases inconclusive. Recently, RNA sequencing has proven to be an effective complementary avenue to detect aberrant splicing. Here, we develop FRASER, an algorithm to detect aberrant splicing from RNA sequencing data. Unlike existing methods, FRASER captures not only alternative splicing but also intron retention events. This typically doubles the number of detected aberrant events and identified a pathogenic intron retention in MCOLN1 causing mucolipidosis. FRASER automatically controls for latent confounders, which are widespread and affect sensitivity substantially. Moreover, FRASER is based on a count distribution and multiple testing correction, thus reducing the number of calls by two orders of magnitude over commonly applied z score cutoffs, with a minor loss of sensitivity. Applying FRASER to rare disease diagnostics is demonstrated by reprioritizing a pathogenic aberrant exon truncation in TAZ from a published dataset. FRASER is easy to use and freely available.
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