Exons

Publication Title: 
Plant Physiology

Root-knot nematode (RKN) Meloidogyne species are major polyphagous pests of most crops worldwide, and cultivars with durable resistance are urgently needed because of nematicide bans. The Ma gene from the Myrobalan plum (Prunus cerasifera) confers complete-spectrum, heat-stable, and high-level resistance to RKN, which is remarkable in comparison with the Mi-1 gene from tomato (Solanum lycopersicum), the sole RKN resistance gene cloned. We report here the positional cloning and the functional validation of the Ma locus present at the heterozygous state in the P.2175 accession.

Author(s): 
Claverie, Michel
Dirlewanger, Elisabeth
Bosselut, Nathalie
Van Ghelder, Cyril
Voisin, Roger
Kleinhentz, Marc
Lafargue, Bernard
Abad, Pierre
Rosso, Marie-Noëlle
Chalhoub, Boulos
Esmenjaud, Daniel
Publication Title: 
The Journal of Biological Chemistry

Human TDP-43 represents the main component of neuronal inclusions found in patients with neurodegenerative diseases, especially frontotemporal lobar degeneration and amyotrophic lateral sclerosis. In vitro and in vivo studies have shown that the TAR DNA-binding protein 43 (TDP-43) Drosophila ortholog (TBPH) can biochemically and functionally overlap the properties of the human factor.

Author(s): 
Romano, Maurizio
Buratti, Emanuele
Romano, Giulia
Klima, Raffaella
Del Bel Belluz, Lisa
Stuani, Cristiana
Baralle, Francisco
Feiguin, Fabian
Publication Title: 
European Journal of Neurology

Mutations in the dysferlin gene (DYSF) on chromosome 2p13 cause distinct phenotypes of muscular dystrophy: limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy (MM), and distal anterior compartment myopathy, which are known by the term 'dysferlinopathy'. We performed mutation analyses of DYSF in 14 Italian patients from 10 unrelated families with a deficiency of dysferlin protein below 20% of the value in normal controls by immunoblotting analysis. We identified 11 different mutations, including eight missense and three deletion mutations.

Author(s): 
Kawabe, K.
Goto, K.
Nishino, I.
Angelini, C.
Hayashi, Y. K.
Publication Title: 
Molecular Psychiatry

Genetic studies implicating the region of human chromosome 18p11.2 in susceptibility to bipolar disorder and schizophrenia have observed parent-of-origin effects that may be explained by genomic imprinting. We have identified a transcriptional variant of the GNAL gene in this region, employing an alternative first exon that is 5' to the originally identified start site. This alternative GNAL transcript encodes a longer functional variant of the stimulatory G-protein alpha subunit, Golf.

Author(s): 
Corradi, J. P.
Ravyn, V.
Robbins, A. K.
Hagan, K. W.
Peters, M. F.
Bostwick, R.
Buono, R. J.
Berrettini, W. H.
Furlong, S. T.
Publication Title: 
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics

The serotonin reuptake transporter (5HTT) is thought to be the principal regulator of serotonergic activity and epigenetic effects at this locus are thought to be important moderators of vulnerability to neuropsychiatric illness. In attempt to understand the basis of this regulation, several gene polymorphisms that affect 5HTT mRNA levels have been described. But to date, no clear mechanism linking these polymorphisms to vulnerability to epigenetic effects have been described.

Author(s): 
Philibert, Robert
Madan, Anup
Andersen, Allan
Cadoret, Remi
Packer, Hans
Sandhu, Harinder
Publication Title: 
BMC medical genetics

BACKGROUND: Schizophrenia is considered a language related human specific disease. Previous studies have reported evidence of positive selection for schizophrenia-associated genes specific to the human lineage. FOXP2 shows two important features as a convincing candidate gene for schizophrenia vulnerability: FOXP2 is the first gene related to a language disorder, and it has been subject to positive selection in the human lineage. METHODS: Twenty-seven SNPs of FOXP2 were genotyped in a cohort of 293 patients with schizophrenia and 340 controls.

Author(s): 
Tolosa, Amparo
Sanju·n, Julio
Dagnall, Adam M.
MoltÛ, MarÌa D.
Herrero, Neus
de Frutos, Rosa
Publication Title: 
PloS One

Major depression, because of its recurring and life-threatening nature, is one of the top 10 diseases for global disease burden. Major depression is still diagnosed on the basis of clinical symptoms in patients. The search for specific biological markers is of great importance to advance the method of diagnosis for depression. We examined the methylation profile of 2 CpG islands (I and IV) at the promoters of the brain-derived neurotrophic factor (BDNF) gene, which is well known to be involved in the pathophysiology of depression.

Author(s): 
Fuchikami, Manabu
Morinobu, Shigeru
Segawa, Masahiro
Okamoto, Yasumasa
Yamawaki, Shigeto
Ozaki, Norio
Inoue, Takeshi
Kusumi, Ichiro
Koyama, Tsukasa
Tsuchiyama, Kounosuke
Terao, Takeshi
Publication Title: 
Journal of Affective Disorders

BACKGROUND: Alterations of brain-derived neurotrophic factor (BDNF) DNA methylation at specific BDNF promoters and corresponding gene expressions are associated with pathology and the response to antidepressant (AD) therapy in affective disorders such as major depressive disorder (MDD) and bipolar disorder (BD). METHODS: Genomic DNA was derived from peripheral blood mononuclear cells (PBMCs) and was bisulfite converted. Percentage of methylated reference (PMR) was calculated based on results from quantitative real-time PCR following the MethyLight protocol.

Author(s): 
Carlberg, Laura
Scheibelreiter, Janine
Hassler, Melanie R.
Schloegelhofer, Monika
Schmoeger, Michaela
Ludwig, Birgit
Kasper, Siegfried
Aschauer, Harald
Egger, Gerda
Schosser, Alexandra
Publication Title: 
Biological Psychiatry

The early-life social environment can induce stable changes that influence neurodevelopment and mental health. Research focused on early-life adversity revealed that early-life experiences have a persistent impact on gene expression and behavior through epigenetic mechanisms. The hypothalamus-pituitary-adrenal axis is sensitive to changes in the early-life environment that associate with DNA methylation of a neuron-specific exon 17 promoter of the glucocorticoid receptor (GR) (Nr3c1).

Author(s): 
Turecki, Gustavo
Meaney, Michael J.
Publication Title: 
Behavior Genetics

Epigenetic modulations are a hypothesized link between environmental factors and the development of psychiatric disorders. Research has suggested that patients with depression or bipolar disorder exhibit higher methylation levels in the glucocorticoid receptor gene NR3C1. We aimed to investigate whether NR3C1 methylation changes are similarly associated with externalizing disorders such as aggressive behavior and conduct disorder.

Author(s): 
Heinrich, Angela
Buchmann, Arlette F.
Zohsel, Katrin
Dukal, Helene
Frank, Josef
Treutlein, Jens
Nieratschker, Vanessa
Witt, Stephanie H.
Brandeis, Daniel
Schmidt, Martin H.
Esser, G¸nter
Banaschewski, Tobias
Laucht, Manfred
Rietschel, Marcella

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