Hall coefficient and angle-resolved photoemission in systems with strong pair fluctuations

We examine the normal-state temperature and doping dependence of the Hall coefficient in the context of a pair-fluctuation scenario, based on a model where itinerant electrons are hybridized with localized electron pairs via a charge exchange term. We show that an anomalous behavior of the Hall effect, qualitatively similar to that observed in high-Tc superconductors, can be attributed to the non-Fermi liquid properties of the single-particle spectral function which exhibits pseudogap features. Our calculations are based on a dynamical mean-field procedure which relates the transport coefficients to the single-particle spectral function in an exact way.Comment: 7 pages, 6 included figures, to appear in Phys. Rev.

Additional Efnb1 Mutations In Craniofrontonasal Syndrome

[No abstract available]1461520082012Chin-Sang, I., George, S., Ding, M., Moseley, S., Lynch, A., Chisholm, A., The ephrin VAB-2/EFN-1 functions in neuronal signaling to regulate epidermal morphogenesis in C. elegans (1999) Cell, 99, pp. 781-790Compagni, A., Logan, M., Klein, R., Adams, R., Control of skeletal patterning by ephrinB1-EphB interactions (2003) Dev Cell, 5, pp. 217-230Davy, A., Aubin, J., Soriano, P., Ephrin-B1 forward and reverse signaling are required during mouse development (2004) Genes Dev, 18, pp. 572-583Feldman, G.J., Ward, D.E., Lajeunie-Renier, E., Saavedra, D., Robin, N.H., Proud, V., Robb, L.J., Muenke, M., A novel phenotypic pattern in X-linked inheritance: Craniofrontonasal syndrome maps to Xp22 (1997) Hum Mol Genet, 6, pp. 1937-1941Gorlin, R.J., Cohen, M.M., Hennekam, R.C.M., Syndromes of the head and neck (2001) Oxford monographs on medical genetics, , 4th edition. New York, NY: Oxford University PressHimanen, J., Rajashankar, K., Lackmann, M., Cowan, C., Henkemeyer, M., Nikolov, D., Crystal structure of an Eph receptor-ephrin complex (2001) Nature, 414, pp. 933-938Kere, J., Ritvanen, A., Marttinen, E., Kaitila, I., Craniofrontonasal dysostosis: Variable expression in a three-generation family (1990) Clin Genet, 38, pp. 441-446Klein, R., Eph/ephrin signaling in morphogenesis, neural development and plasticity (2004) Curr Opin Cell Biol, 16, pp. 580-589Maquat, L., Nonsense-mediated mRNA decay: Splicing, translation and mRNP dynamics (2004) Nat Rev Mol Cell Biol, 5, pp. 89-99McPherson, E., Estop, A., Paulus-Thomas, J., Craniofrontonasal dysplasia in a girl with del (X) (p22.2) (1991) Am J Hum Genet, 49, pp. A774Morris, C.A., Palumbos, J.C., Carey, J.C., Delineation of the male phenotype in carniofrontonasal syndrome (1987) Am J Med Genet, 27, pp. 623-631Shotelersuk, V., Siriwan, P., Ausavarat, S., A novel mutation in EFNB1, probably with a dominant negative effect, underlying craniofrontonasal syndrome (2006) Cleft Palate Craniofac J, 43, pp. 152-154Torii, C., Izumi, K., Nakajima, H., Takahashi, T., Kosaki, K., EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome (2007) Congenit Anom (Kyoto), 47, pp. 49-52Twigg, S., Kan, R., Babbs, C., Bochukova, E., Robertson, S., Wall, S., Morriss-Kay, G., Wilkie, A., Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome (2004) Proc Natl Acad Sci USA, 101, pp. 8652-8657Twigg, S., Matsumoto, K., Kidd, A., Goriely, A., Taylor, I., Fisher, R., Hoogeboom, A., Wilkie, A., The origin of EFNB1 mutations in craniofrontonasal syndrome: Frequent somatic mosaicism and explanation of the paucity of carrier males (2006) Am J Hum Genet, 78, pp. 999-1010Vasuclevan, P.C., Twigg, S.R., Mulliken, J.B., Cook, J.A., Quarrell, O.W., Wilkie, A.O., Expanding the phenotype of craniofrontonasal syndrome: Two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia (2006) Eur J Hum Genet, 14, pp. 884-887Wieland, I., Jakubiczka, S., Muschke, P., Cohen, M., Thiele, H., Gerlach, K., Adams, R., Wieacker, P., Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome (2004) Am J Hum Genet, 74, pp. 1209-1215Wieland, I., Makarov, R., Reardon, W., Tinschert, S., Goldenberg, A., Thierry, P., Wieacker, P., Dissecting the molecular mechanisms in craniofrontonasal syndrome: Differential mRNA expression of mutant EFNB1 and the cellular mosaic (2008) Eur J Hum Genet, 16, pp. 184-191Wieland, I., Reardon, W., Jakubiczka, S., Franco, B., Kress, W., Vincent-Delorme, C., Thierry, P., Wieacker, P., Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS) (2005) Hum Mutat, 26, pp. 113-118Wieland, I., Weidner, C., Ciccone, R., Lapi, E., McDonald-McGinn, D., Kress, W., Jakubiczka, S., Wieacker, P., Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome (2007) Clin Genet, 72, pp. 506-51

Drosophila bristles and the nature of quantitative genetic variation

Numbers of Drosophila sensory bristles present an ideal model system to elucidate the genetic basis of variation for quantitative traits. Here, we review recent evidence that the genetic architecture of variation for bristle numbers is surprisingly complex. A substantial fraction of the Drosophila genome affects bristle number, indicating pervasive pleiotropy of genes that affect quantitative traits. Further, a large number of loci, often with sex- and environment-specific effects that are also conditional on background genotype, affect natural variation in bristle number. Despite this complexity, an understanding of the molecular basis of natural variation in bristle number is emerging from linkage disequilibrium mapping studies of individual candidate genes that affect the development of sensory bristles. We show that there is naturally segregating genetic variance for environmental plasticity of abdominal and sternopleural bristle number. For abdominal bristle number this variance can be attributed in part to an abnormal abdomen-like phenotype that resembles the phenotype of mutants defective in catecholamine biosynthesis. Dopa decarboxylase (Ddc) encodes the enzyme that catalyses the final step in the synthesis of dopamine, a major Drosophila catecholamine and neurotransmitter. We found that molecular polymorphisms at Ddc are indeed associated with variation in environmental plasticity of abdominal bristle number

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

Item does not contain fulltextPURPOSE: JARID2, located on chromosome 6p22.3, is a regulator of histone methyltransferase complexes that is expressed in human neurons. So far, 13 individuals sharing clinical features including intellectual disability (ID) were reported with de novo heterozygous deletions in 6p22-p24 encompassing the full length JARID2 gene (OMIM 601594). However, all published individuals to date have a deletion of at least one other adjoining gene, making it difficult to determine if JARID2 is the critical gene responsible for the shared features. We aim to confirm JARID2 as a human disease gene and further elucidate the associated clinical phenotype. METHODS: Chromosome microarray analysis, exome sequencing, and an online matching platform (GeneMatcher) were used to identify individuals with single-nucleotide variants or deletions involving JARID2. RESULTS: We report 16 individuals in 15 families with a deletion or single-nucleotide variant in JARID2. Several of these variants are likely to result in haploinsufficiency due to nonsense-mediated messenger RNA (mRNA) decay. All individuals have developmental delay and/or ID and share some overlapping clinical characteristics such as facial features with those who have larger deletions involving JARID2. CONCLUSION: We report that JARID2 haploinsufficiency leads to a clinically distinct neurodevelopmental syndrome, thus establishing gene-disease validity for the purpose of diagnostic reporting