Genotype

Publication Title: 
Molecular Biology of the Cell

In Saccharomyces cerevisiae, telomeric DNA is protected by a nonnucleosomal protein complex, tethered by the protein Rap1. Rif and Sir proteins, which interact with Rap1p, are thought to have further interactions with conventional nucleosomic chromatin to create a repressive structure that protects the chromosome end.

Author(s): 
Smith, C. D.
Smith, D. L.
DeRisi, J. L.
Blackburn, E. H.
Publication Title: 
Schizophrenia Bulletin

Although a decade has passed since the genetics of schizophrenia was examined for the Schizophrenia Bulletin, the epigenetic puzzle of schizophrenia has not yielded its secrets to any scientific break-through. In this article we review a sample of the highlights relevant to enlightened genetic thinking, i.e., a broad diathesis-stressor framework with multifactorial causation assumed and with provision for the epigenetic interaction of psychosocial as well as neurobiological factors.

Author(s): 
Gottesman, I. I.
McGuffin, P.
Farmer, A. E.
Publication Title: 
American Journal of Medical Genetics

The hypothesis that a gene for susceptibility to psychosis (specifically in the X-Y homologous class) is located on the sex chromosomes has been proposed. Such a gene would account for the excess of sex chromosome anomalous males and females in populations of patients with psychosis, a tendency towards concordance by sex within families, and sex differences associated with psychosis and its underlying brain pathology. In earlier studies we observed small positive LOD scores in Xp11, and in a more recent and larger cohort of 178 sibling pairs, a peak multipoint nonparametric LOD score of 1.

Author(s): 
DeLisi, L. E.
Shaw, S.
Sherrington, R.
Nanthakumar, B.
Shields, G.
Smith, A. B.
Wellman, N.
Larach, V. W.
Loftus, J.
Razi, K.
Stewart, J.
Comazzi, M.
Vita, A.
de Hert, M.
Crow, T. J.
Publication Title: 
The American Journal of Psychiatry

OBJECTIVE: Some genome-wide scans and association studies for schizophrenia susceptibility genes have yielded significant positive findings, but there is disagreement between studies on their locations, and no mutation has yet been found in any gene. Since schizophrenia is a complex disorder, a study with sufficient power to detect a locus with a small or moderate gene effect is necessary.

Author(s): 
DeLisi, Lynn E.
Shaw, Sarah H.
Crow, Timothy J.
Shields, Gail
Smith, Angela B.
Larach, Veronica W.
Wellman, Nigel
Loftus, Josephine
Nanthakumar, Betsy
Razi, Kamran
Stewart, John
Comazzi, Margherita
Vita, Antonio
Heffner, Thomas
Sherrington, Robin
Publication Title: 
Current Opinion in Pediatrics

Phenylketonuria is a flagship inborn error of metabolism and has been at the forefront of our growing understanding, diagnosis, and treatment of this family of disorders. In this article, the current understanding of its diagnosis, treatment, and complex molecular biology and physiology is reviewed. Recent papers exploring newer and less well-delineated areas of cofactor supplementation and genetic and epigenetic modification of the genotypic expression are presented. The excitement surrounding the continued exploration of the hyperphenylalaninemias is emphasized.

Author(s): 
Cederbaum, Stephen
Publication Title: 
Journal of Child Psychology and Psychiatry, and Allied Disciplines

BACKGROUND: Genotype x environment interaction (G x E) arises when genes influence sensitivity to the environment. G x E is easily recognized in experimental organisms that permit randomization of genotypes over fixed environmental treatments. Genotype-environment correlation (rGE) arises when genetic effects create or evoke exposure to environmental differences.

Author(s): 
Eaves, Lindon
Silberg, Judy
Erkanli, Alaattin
Publication Title: 
Molecular Psychiatry

The serotonin-2A (HTR2A) receptor is a molecule of particular interest in biological psychiatry, as it is an important target for psychotropic drugs, and altered HTR2A expression has been found in several neuropsychiatric conditions, including depression and schizophrenia. Genetic association has been reported between a synonymous 102T/C polymorphism in the gene encoding HTR2A and a number of clinical phenotypes, including schizophrenia, clozapine response, psychotic symptoms in Alzheimer's disease and certain features of depression.

Author(s): 
Bray, N. J.
Buckland, P. R.
Hall, H.
Owen, M. J.
O'Donovan, M. C.
Publication Title: 
Human Genetics

This is the first report of a full genome scan of sexual orientation in men. A sample of 456 individuals from 146 families with two or more gay brothers was genotyped with 403 microsatellite markers at 10-cM intervals. Given that previously reported evidence of maternal loading of transmission of sexual orientation could indicate epigenetic factors acting on autosomal genes, maximum likelihood estimations (mlod) scores were calculated separated for maternal, paternal, and combined transmission.

Author(s): 
Mustanski, Brian S.
Dupree, Michael G.
Nievergelt, Caroline M.
Bocklandt, Sven
Schork, Nicholas J.
Hamer, Dean H.
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: 
Journal of Affective Disorders

BACKGROUND: Galanin (GAL) is a neuropeptide, which is expressed primarily in limbic nuclei in the brain and mediates miscellaneous physiological processes and behaviors. In animal studies, both the application of GAL and antagonism of its receptors have been shown to affect anxiety-like and depression-related behavior. In humans, intravenous administration of the neuropeptide galanin has been reported to have fast antidepressant efficacy.

Author(s): 
Unschuld, Paul G.
Ising, Marcus
Erhardt, Angelika
Lucae, Susanne
Kohli, Martin
Kloiber, Stefan
Salyakina, Daria
Thoeringer, Christoph K.
Kern, Nikola
Lieb, Roselind
Uhr, Manfred
Binder, Elisabeth B.
M¸ller-Myhsok, Bertram
Holsboer, Florian
Keck, Martin E.

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