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The first genomewide interaction and locus-heterogeneity linkage scan in bipolar affective disorder: strong evidence of epistatic effects between loci on chromosomes 2q and 6q
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Abou Jamra R Fuerst R Kaneva R Orozco Diaz G Rivas F Mayoral F Gay E Sans S Gonzalez MJ Gil S Cabaleiro F Del Rio F Perez F Haro J Auburger G Milanova V Kostov C Chorbov V Stoyanova V Nikolova-Hill A Onchev G Kremensky I Jablensky A Schulze TG Propping P Rietschel M Nothen MM Cichon S Wienker TF Schumacher J 《American journal of human genetics》2007,81(5):974-986
We present the first genomewide interaction and locus-heterogeneity linkage scan in bipolar affective disorder (BPAD), using a large linkage data set (52 families of European descent; 448 participants and 259 affected individuals). Our results provide the strongest interaction evidence between BPAD genes on chromosomes 2q22-q24 and 6q23-q24, which was observed symmetrically in both directions (nonparametric LOD [NPL] scores of 7.55 on 2q and 7.63 on 6q; P<.0001 and P=.0001, respectively, after a genomewide permutation procedure). The second-best BPAD interaction evidence was observed between chromosomes 2q22-q24 and 15q26. Here, we also observed a symmetrical interaction (NPL scores of 6.26 on 2q and 4.59 on 15q; P=.0057 and .0022, respectively). We covered the implicated regions by genotyping additional marker sets and performed a detailed interaction linkage analysis, which narrowed the susceptibility intervals. Although the heterogeneity analysis produced less impressive results (highest NPL score of 3.32) and a less consistent picture, we achieved evidence of locus heterogeneity at chromosomes 2q, 6p, 11p, 13q, and 22q, which was supported by adjacent markers within each region and by previously reported BPAD linkage findings. Our results provide systematic insights in the framework of BPAD epistasis and locus heterogeneity, which should facilitate gene identification by the use of more-comprehensive cloning strategies. 相似文献
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Apostolos Siapatis Marianna Giannoulaki Vasilis D. Valavanis Andreas Palialexis Eudoxia Schismenou Athanassios Machias Stylianos Somarakis 《Hydrobiologia》2008,612(1):281-295
The invasive ctenophore Mnemiopsis leidyi was accidentally introduced into the Black Sea in the early 1980s and it was first sighted in the Aegean Sea (Eastern Mediterranean)
in the early 1990s. This article presents a first attempt to develop a predictive spatial model based on M. leidyi presence data and satellite environmental data from the Aegean Sea during early summer, in order to identify those areas
in the Greek Seas and the entire Mediterranean basin that could serve as potential habitat for the species. Generalized additive models (GAM) were applied. The final GAM model indicated higher probability of finding M. leidyi present in depths of 65–135 m and sea surface temperature values of 21–25°C. Furthermore, the significant interaction between
photosynthetically active radiation (PAR) and sea level anomaly (SLA) indicated a higher probability of M. leidyi presence in low values of PAR and SLA. In the next step, the final GAM was applied in a prediction grid of mean monthly satellite
values for June 2004–2006 in order to estimate probability of M. leidyi presence in the Hellenic Seas and the whole Mediterranean basin at a GIS resolution of 4 km. In the Aegean Sea, species potential
habitat included areas influenced by the Black Sea Water (e.g. Thracian Sea, Limnos-Imvros plateau), gulfs that are affected
by river runoffs, such as the Thermaikos, Strymonikos and Patraikos gulfs, or areas with strong anthropogenic influence such
as the Saronikos gulf. Areas with the same environmental conditions as those in Aegean Sea have been indicated in certain
spots of the Levantine Sea as well as in coastal waters of Egypt and Libya, although their spatial extent varied largely among
years examined. However, the occurrence of conditions that are linked to high probability of M. leidyi presence does not necessarily mean that these areas can support successful reproduction, high population or bloom levels,
since these depend on a combination of temperature, salinity, food availability and the abundance of predators.
Guest editor: V. D. Valavanis
Essential Fish Habitat Mapping in the Mediterranean 相似文献
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Eudoxia Schismenou Marianna Giannoulaki Vasilis D. Valavanis Stylianos Somarakis 《Hydrobiologia》2008,612(1):201-214
Anchovy and round sardinella are two important small pelagic species in the Mediterranean that spawn during the summer period.
This is a first attempt to model and predict the two species’ potential spawning habitats in this area. Generalized additive
models (GAMs) were constructed based on satellite environmental variables and presence/absence egg data, available from ichthyoplankton
surveys conducted in the North Aegean Sea during early summer (June 2003–2006). These models were subsequently used to predict
the probability of anchovy and round sardinella spawning in the Greek Seas as well as the entire Mediterranean and Black Sea
during the same month of the year. The interaction of bottom depth and chlorophyll explained most of the deviance in the presence/absence
GAMs of both species, indicating spawning over continental shelf areas with increased surface chlorophyll values. Round sardinella
spawned closer to coast than anchovy. Predicted potential spawning areas for anchovy and round sardinella in unsampled areas
of the Greek Seas and the entire Mediterranean and Black Sea were in good agreement with existing information on the distribution
and extent of the spawning grounds, especially for anchovy. Modeling the species’ reproductive activity in relation to easily
accessible environmental information and applying the models in a predictive way could be an initial, low-cost step to designate
potential spawning fish habitats.
Guest editor: V. D. Valavanis
Essential Fish Habitat Mapping in the Mediterranean 相似文献
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Chrisoulidou A Pazaitou-Panayiotou K Flaris N Drimonitis A Giavroglou I Ginikopoulou E Vainas I 《Hormone research》2004,61(4):190-192
OBJECTIVE: The case of a 60-year-old male patient with follicular thyroid cancer who developed a pituitary mass proved to be a metastasis from thyroid cancer. METHODS: Assessment with whole-body scan, ultrasound, computed tomography and thyroglobulin measurements. RESULTS: Despite surgery and repeated doses of radioiodine, the patient developed diplopia and ptosis of the right eyelid, along with increasing thyroglobulin levels. A pituitary mass was discovered, with no signs of pituitary deficiency. The mass was removed and found to consist of neoplastic cells immunohistochemically positive to thyroglobulin. CONCLUSIONS: Distant metastases may develop in cases of follicular thyroid carcinoma, even after repeated doses of (131)I. Metastatic follicular thyroid carcinoma to the pituitary is a rare entity. 相似文献
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Eunice Judith Cardoso de Almeida Cecília Mikie Yamada Eudoxia Maria Froehlich 《Hydrobiologia》1991,227(1):169-173
The chromosome complement and the C-banded karyotypes of specimens of Geoplana marginata auct. and of Issoca rezendei (Schirch) were investigated. The diploid and fundamental numbers of the two species were identical (2n = 14; FN = 28). Their karyotypes were similar except for the morphology of chromosome pair 6. Their C-banding patterns differed in quantity and localization of the constitutive heterochromatin. The similarity in karyotypes of these species support the hypothesis, proposed earlier on morphological grounds, that the genera Geoplana Stimpson and Issoca Froehlich are closely related. G. marginata and I. rezendei are the first land planarian species of the Neotropical Region to have their karyotypes described. 相似文献
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Megas C Hatzivassiliou EG Yin Q Marinopoulou E Hadweh P Vignali DA Mosialos G 《Cellular signalling》2011,23(5):772-777
TRAF6 is an E3 ubiquitin ligase that plays a pivotal role in the activation of NF-κB by innate and adaptive immunity stimuli. TRAF6 consists of a highly conserved carboxyl terminal TRAF-C domain which is preceded by a coiled coil domain and an amino terminal region that contains a RING domain and a series of putative zinc-finger motifs. The TRAF-C domain contributes to TRAF6 oligomerization and mediates the interaction of TRAF6 with upstream signaling molecules whereas the RING domain comprises the core of the ubiquitin ligase catalytic domain. In order to identify structural elements that are important for TRAF6-induced NF-κB activation, mutational analysis of the TRAF-C and RING domains was performed. Alterations of highly conserved residues of the TRAF-C domain of TRAF6 did not affect significantly the ability of the protein to activate NF-κB. On the other hand a number of functionally important residues (L77, Q82, R88, F118, N121 and E126) for the activation of NF-κB were identified within the RING domain of TRAF6. Interestingly, several homologues of these residues in TRAF2 were shown to have a conserved functional role in TRAF2-induced NF-κB activation and lie at the dimerization interface of the RING domain. Finally, whereas alteration of Q82, R88 and F118 compromised both the K63-linked polyubiquitination of TRAF6 and its ability to activate NF-κB, alteration of L77, N121 and E126 diminished the NF-κB activating function of TRAF6 without affecting TRAF6 K63-linked polyubiquitination. Our results support a conserved functional role of the TRAF RING domain dimerization interface and a potentially necessary but insufficient role for RING-dependent TRAF6 K63-linked polyubiquitination towards NF-κB activation in cells. 相似文献
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