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At least 127 records · Page 7Linked to original sources
PubMed2000

Long repeat tracts at SCA8 in major psychosis.

Expansion at a recently identified unstable trinucleotide repeat on chromosome 13q21 has been reported as the molecular cause for spinocerebellar ataxia type 8 (SCA8). The trinucleotide repeat, which consists of a [CTA]n repeat and adjacent [CTG]n repeat, was reported to have a pathogenic range of 107-127 CTG repeats (or 110-130 combined CTA and CTG repeats) in a large ataxia kindred. This repeat region was also cloned by our group from a bipolar affective disorder (BPAD) patient, who has approximately 600 combined repeats, and large alleles (>100 repeats) were reported to be present in 0.7% of controls and 1.5% of major psychosis patients (n = 710 and n = 1,120, respectively). We have followed up these findings by screening three new samples of BPAD and schizophrenia (SCZ) patients and controls, including 272 individuals from 14 BPAD families from Sweden, 130 individuals from 32 SCZ and BPAD families/trios from the Azores Islands, and 206 SCZ individuals from the United Kingdom and Ireland, and 219 matched controls. We found large repeat alleles above the SCA8 pathogenic range in individuals from 3 of 32 Azorean pedigrees and in 1 of 206 SCZ individuals from the United Kingdom, and repeat alleles within the SCA8 pathogenic range in 1 of 14 Swedish families. Although the rarity of major psychosis patients carrying the SCA8 expansion mutation would require a much larger sample size to reach statistical significance, these results support the previously reported observation of increased occurrence of large repeats at SCA8 in major psychosis. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:873-876, 2000.

Alleles↗
PubMed1976

Nasopharyngeal cancer in Bermuda.

Six cases of nasopharyngeal carcinoma (NPC) were diagnosed in residents of Bermuda in the 7-year period 1966-1972. While epidemiologic study revealed no history of common environmental exposures, two of the six cases occurred in adult sibs from a family in which a third adult sib developed NPC in 1963. These three cases were from a large, possibly in-bred Portuguese family with origins in the Azores Islands. The remaining four cases were all in black children ages 10-15; two of these were first cousins. These observations suggest the possibility that genetic influence may contribute to the etiology of NPC.

Adolescent↗
PubMed1986

Joseph's disease: clinical and pathological studies in a Japanese family.

Joseph's disease is a hereditary ataxia found among descendants of Portuguese from the Azores Islands. We describe the clinical and pathological features of 4 members of a Japanese family who were diagnosed as having Joseph's disease. The illness began with cerebellar ataxia between the ages of 18 and 45 years. Nystagmus, dysarthria, and pyramidal signs were early manifestations. External ophthalmoplegia, dystonia and/or athetotic movements, and muscular atrophy appeared in the late stages. Neuropathological findings in one patient revealed degeneration of the dentatorubral and pallidoluysian systems, substantia nigra, pontocerebellar system, Clarke's column and spinocerebellar tracts, and anterior horn cells, as well as the cranial nuclei in the brainstem. Neurons in the inferior olivary nuclei, Purkinje's and granule cells, the cerebral cortex, thalamus, and striatum were spared. Involvement of the dentatorubral and pallidoluysian systems seems to be a characteristic feature of this disease in Japan.

Adolescent↗
PubMed1994

Homozygous inheritance of the Machado-Joseph disease gene.

We report a patient presenting at age 16 years with postural instability and falls who developed severe generalized dystonia by the age of 20 years. He was the product of a consanguineous marriage. Maternal grandfather and paternal grandmother (brother and sister) living in the Azores were both affected by Machado-Joseph disease (MJD) beginning late in life. To date neither of the patient's parents are clinically affected. Linkage studies in this family and others of Azorean descent have confirmed the recent mapping of the MJD gene to chromosome 14q. Genotyping of the members of this pedigree provides strong genetic evidence that our patient is homozygous for the MJD gene. Our results combined with experience in 2 putative homozygotes previously reported in the literature suggest that gene dosage is an important determinant of age of onset and clinical phenotype in MJD. Other possible influencing factors are discussed.

Adult↗
PubMed1992

Machado-Joseph disease: an autosomal dominant motor system degeneration.

Machado-Joseph disease is an autosomal dominant spinocerebellar degeneration. It expresses itself clinically with variable expression. Type one patients have early onset with a rapid progression of symptoms including spasticity, rigidity and myokymia. Type two patients are the most common phenotype with ataxia and spasticity. Type three patients develop progressive ataxia with variable amyotrophy. All patients have ophthalmoparesis and normal mental status. The neuropathology consists of neuronal loss and gliosis in the substantia nigra, motor cranial nuclei, dentate nucleus of the cerebellum, and variable neuronal loss with gliosis in the cerebellar cortex and neostriatum. The cerebral cortex is normal histologically. The inferior olivary nuclei are normal, thus separating this disease from olivopontocerebellar atrophy (OPCA). The disease has a worldwide distribution including families described in Portugal, the Azores, Spain, Italy, United States, Canada, Brazil, China, Taiwan, and Japan. The gene has not been mapped for this disease but the locus on chromosome 6p mapped for most families with OPCA has been excluded for this disorder.

Chromosome Aberrations↗
PubMed1999

A highly conserved plasmid from the extreme thermophile Thermotoga maritima MC24 is a member of a family of plasmids distributed worldwide.

We have screened Thermotoga strains, isolated from hydrothermal vents near the Kuril Islands, for the presence of plasmid DNA. The miniplasmid pMC24 was isolated from the extreme thermophilic eubacteria Thermotoga maritima and sequenced, showing it to be a plasmid of 846 bp. It was found, from a search of the databases, to be closely related to the previously described Thermotoga miniplasmid pRQ7, isolated from a strain found on the Azore Islands, and was distinguished by only two point mutations. These changes resulted in two consecutive frameshifts altering a region encoding 9 amino acids in the Rep-coding region. We have also shown that pMC24, as with pRQ7, is negatively supercoiled. It seems that negatively supercoiled miniplasmids related to pRQ7 are spread worldwide and strongly maintained among Thermotoga strains.

Base Sequence↗
PubMed1999

Isolation and characterization of Thermus thermophilus Gy1211 from a deep-sea hydrothermal vent.

We examined a single, non-spore-forming, aerobic, thermophilic strain that was isolated from a deep-sea hydrothermal vent in the Guaymas Basin at a depth of 2000 m and initially placed in a phenetic group with Thermus scotoductus (X-1). We identified this deep-sea isolate as a new strain belonging to Thermus thermophilus using several parameters. DNA-DNA hybridization under stringent conditions showed 74% similarity between the deep-sea isolate and T. thermophilus HB-8T (T = type strain). Phenotypic characteristics, such as the utilization of carbon sources, hydrolysis of different compounds, and antibiotic sensitivity were identical in the two strains. The polar lipids composition showed that strain Gy1211 belonged to the genus Thermus. The fatty acids composition indicated that this strain was related to the marine T. thermophilus strain isolated from the Azores. The new isolate T. thermophilus strain Gy1211 grew optimally at 75 degrees C, pH 8.0; and 2% NaCl. A hydrostatic pressure of 20 MPa, similar to the in situ hydrostatic pressure of the deep-sea vent from which the strain was isolated, had no effect on growth. Strain HB-8T, however, showed slower growth under these conditions.

Cell Division↗
PubMed2001

Isolation of Thermoanaerobacter keratinophilus sp. nov., a novel thermophilic, anaerobic bacterium with keratinolytic activity.

Several thermophilic anaerobic bacteria with keratinolytic activity growing at temperatures between 50 degrees C and 90 degrees C were isolated from samples collected on the island of São Miguel in the Azores (Portugal). On the basis of morphological, physiological, and 16S rDNA studies, the isolate 2KXI was identified as a new species of the genus Thermoanaerobacter, designated Thermoanaerobacter keratinophilus. This strain, which grows optimally at 70 degrees C, pH 7.0, and 0.5% NaCl, is the first member of the genus Thermoanaerobacter that has been described for its ability to degrade native keratin. Around 70% of native wool was solubilized after 10 days of incubation under anaerobic conditions. The strain was shown to possess intracellular and extracellular proteases optimally active at 60 degrees C, pH 7.0, and 85 degrees C, pH 8.0, respectively. Keratin hydrolysis was demonstrated in vitro using a sodium dodecyl sulfate gel containing feather meal. The extracellular protease responsible for breaking down keratin fibers was purified to homogeneity in only one step by applying hydroxyapatite column chromatography. The enzyme belongs to the serine-type proteases and has a molecular mass of 135 kDa.

Bacillaceae↗
PubMed2004

The connective tissue index of Helix aspersa as a metal biomarker.

The digestive gland of adult land snails, Helix aspersa, sampled from four different sites in São Miguel island (Azores) was submitted to chemical analyses, autometallography and haemalum/eosin staining, in order to quantify the relative abundance of heavy metals, calcium cells and connective tissue cells. Metals were visualized, through light microscopy, as black silver deposits mostly in the connective tissue cells. Metal levels, essentially of Cu and Fe, were related to the relative volumetric density of connective tissue cells but not to the relative volumetric density of calcium cells from the digestive gland epithelium. Thus, the connective tissue index presented herein is suggested as a biomarker of Cu exposure in terrestrial mollusks.

Animals↗
PubMed2005

Metal accumulation and apoptosis in the alimentary canal of Lumbricus terrestris as a metal biomarker.

The chloragogenous tissue and the intestinal epithelium of adult earthworms, Lumbricus terrestris, sampled from sites with and without volcanic activity in the Azores were submitted to hematoxylin/eosin staining, autometallography and TUNEL-test in order to quantify the radial thickness of both tissues, their relative abundance of metals and apoptosis levels. Metals were visualized, through light microscopy, as black silver deposits (BSD) mostly in the chloragogenous tissue. The lowest radial thickness values of both tissues were found in the active volcanic sites, as well as the highest BSD and apoptosis levels. The BSD extent in the chloragogenous tissue, semi-quantified by stereology, exhibited a positive correlation with the apoptosis levels and a negative one with the radial thickness of both tissues. Thus, the variation of the radial thickness of both tissues, but especially of the chloragogenous tissue, which could reflect different cellular turnover rates caused by exposure to metals, is suggested as a biomarker of effect for metal exposure in terrestrial worms inhabiting volcanic environments.

Animals↗
PubMed2003

Genetic study of Coris julis (Osteichthyes, Perciformes, Labridae) evolutionary history and dispersal abilities.

Microsatellite markers have been used to study the genetic variability of rainbow wrasse (Coris julis) Mediterranean and Atlantic populations. Differentiation tests failed to reveal any significant genetic differentiation among samples from continental Portugal and the Azores, despite more than 1800 km of geographical separation. Preliminary results tended to indicate a significant genetic differentiation among Atlantic and Mediterranean samples. It also supported the specific status of Cape Verde populations (Coris atlantica). We compare these results with previous mtDNA analyses and propose a biogeographic scenario that could explain our results.

Animals↗
PubMed2005

Meiothermus timidus sp. nov., a new slightly thermophilic yellow-pigmented species.

Several yellow-pigmented isolates, with optimum growth temperatures between 55 and 60 degrees C, were recovered from hot springs in Central Portugal and the Azores. Phylogenetic analysis of the 16S rDNA showed that these organisms represented a new species of the genus Meiothermus. The new isolates could be distinguished from other strains of the species of the genus Meiothermus by biochemical characteristics and the fatty acid composition because they had very high levels of iso C15:0 and iso C17:0 and very low levels of anteiso C17:0 and iso C16:0. On the basis of the results presented here we propose the name Meiothermus timidus for the new species represented by strains SPS-243(T) (=LMG 22897(T)=CIP 108604(T)), RQ-10 and RQ-12.

Bacterial Typing Techniques↗
PubMed2005

Truepera radiovictrix gen. nov., sp. nov., a new radiation resistant species and the proposal of Trueperaceae fam. nov.

Two isolates, belonging to a new species of a novel genus of the Phylum "Deinococcus/Thermus ", were recovered from hot spring runoffs on the Island of São Miguel in the Azores. Strains RQ-24(T) and TU-8 are the first cultured representatives of a distinct phylogenetic lineage within this phylum. These strains form orange/red colonies, spherical-shaped cells, have an optimum growth temperature of about 50 degrees C, an optimum pH for growth between about 7.5 and 9.5, and do not grow at pH below 6.5 or above pH 11.2. These organisms grow in complex media without added NaCl, but have a maximum growth rate in media with 1.0% NaCl and grow in media containing up to 6.0% NaCl. The organisms are extremely ionizing radiation resistant; 60% of the cells survive 5.0 kGy. These strains are chemoorganotrophic and aerobic; do not grow in Thermus medium under anaerobic conditions with or without nitrate as electron acceptor and glucose as a source of carbon and energy, but ferment glucose to D-lactate without formation of gas. The organisms assimilate a large variety of sugars, organic acids and amino acids. Fatty acids are predominantly iso- and anteiso-branched; long chain 1,2 diols were also found in low relative proportions; menaquinone 8 (MK-8) is the primary respiratory quinone. Peptidoglycan was not detected. Based on 16S rRNA gene sequence analysis, physiological, biochemical and chemical analysis we describe a new species of one novel genus represented by strain RQ-24(T) (CIP 108686(T)=LMG 22925(T)=DSM 17093(T)) for which we propose the name Truepera radiovictrix. We also propose the family Trueperaceae fam. nov. to accommodate this new genus.

Amino Acids↗
PubMed2006

DNA commission of the International Society of Forensic Genetics: Recommendations on the interpretation of mixtures.

The DNA commission of the International Society of Forensic Genetics (ISFG) was convened at the 21st congress of the International Society for Forensic Genetics held between 13 and 17 September in the Azores, Portugal. The purpose of the group was to agree on guidelines to encourage best practice that can be universally applied to assist with mixture interpretation. In addition the commission was tasked to provide guidance on low copy number (LCN) reporting. Our discussions have highlighted a significant need for continuing education and research into this area. We have attempted to present a consensus from experts but to be practical we do not claim to have conveyed a clear vision in every respect in this difficult subject. For this reason, we propose to allow a period of time for feedback and reflection by the scientific community. Then the DNA commission will meet again to consider further recommendations.

Alleles↗
PubMed2006

Urinary bladder lesions in bovine enzootic haematuria.

In cattle, bracken fern chronic toxicity is characterized by the presence of multiple tumours in the bladder (bovine enzootic haematuria). From October 1999 to March 2003, 433 urinary bladders with macroscopical lesions were collected in the slaughterhouse of São Miguel Island (Azores, Portugal), an endemic area where Pteridium aquilinum infestation in pastures is high. Bladder lesions were divided into three main categories (inflammatory lesions, non-neoplastic epithelial abnormalities and tumours) and described in detail. In some cases, neoplastic growth was confined to a single site, but in most cases multiple tumours developed within the same bladder. Epithelial tumours alone were present in 51.2% of the affected bladders, mesenchymal tumours alone in 17.4%, and both epithelial and mesenchymal tumours in the remaining 31.4%. The large number of tumours examined (870) revealed new categories not yet included in other veterinary classification systems, namely, inverted papilloma, papillary neoplasm of apparent low malignant potential, and haemangioendothelioma.

Animals↗
PubMed2005

HLA genes in Madeira Island (Portugal) inferred from sequence-based typing: footprints from different origins.

Human leukocyte antigen (HLA)-A, HLA-B, and HLA-DRB1 polymorphisms were examined in Madeira Island populations. The data was obtained at high-resolution level, using sequence-based typing (SBT). The most frequent alleles at each loci were: A*020101 (24.6%), B*5101 (9.7%), B*440201 (9.2%), and DRB1*070101 (15.7%). The predominant three-loci haplotypes in Madeira were A*020101-B*510101-DRB1*130101 (2.7%) and A*010101-B*0801-DRB1*030101 (2.4%), previously found in north and central Portugal. The present study corroborates historical sources and other genetic studies that say Madeira were populated not only by Europeans, mostly Portuguese, but also sub-Saharan Africans due to slave trade. Comparison with other populations shows that Madeira experienced a stronger African influence due to slave trade than Portugal mainland and even the Azores archipelago. Despite this African genetic input, haplotype and allele frequencies were predominantly from European origin, mostly common to mainland Portugal.

Gene Frequency↗
PubMed2005

Genetic diversity and historical demography of Atlantic bigeye tuna (Thunnus obesus).

Bigeye (Thunnus obesus) is a large, pelagic, and migratory species of tuna that inhabits tropical and temperate marine waters worldwide. Previous studies based on mitochondrial RFLP data have shown that bigeye tunas from the Atlantic Ocean are the most interesting from a genetic point of view. Two highly divergent mitochondrial haplotype clades (I and II) coexist in the Atlantic Ocean. One is almost exclusive of the Atlantic Ocean whereas the other is also found in the Indo-Pacific Ocean. Bigeye tuna from the Atlantic Ocean is currently managed as a single stock, although this assumption remains untested at the genetic level. Therefore, genetic diversity was determined at the mitochondrial control region to test the null hypothesis of no population structure in bigeye tuna from the Atlantic Ocean. A total of 331 specimens were sampled from four locations in the Atlantic Ocean (Canada, Azores, Canary Islands, and Gulf of Guinea), and one in the Indian and Pacific Oceans, respectively. The reconstructed neighbor-joining phylogeny confirmed the presence of Clades I and II throughout the Atlantic Ocean. No apparent latitudinal gradient of the proportions of both clades in the different collection sites was observed. Hierarchical AMOVA tests and pairwise phi(ST) comparisons involving Atlantic Ocean Clades I and II were consistent with a single stock of bigeye tuna in the Atlantic Ocean. Population genetic analyses considering phylogroups independently supported gene flow within Clade II throughout the Atlantic Ocean, and within Clade I between Atlantic and Indo-Pacific Oceans. The latter result suggests present uni-directional gene flow from the Indo-Pacific into the Atlantic Ocean. Moreover, mismatch analyses dated divergence of Clades I and II during the Pleistocene, as previously proposed. In addition, migration rates were estimated using coalescent methods, and showed a net migration from Atlantic Ocean feeding grounds towards the Gulf of Guinea, the best-known spawning ground of Atlantic bigeye tuna.

Animals↗