An H3K9/S10 methyl-phospho switch modulates Polycomb and Pol II binding at repressed genes during differentiation.

Methylated histones H3K9 and H3K27 are canonical epigenetic silencing modifications in metazoan organisms, but the relationship between the two modifications has not been well characterized. H3K9me3 coexists with H3K27me3 in pluripotent and differentiated cells. However, we find that the functioning of H3K9me3 is altered by H3S10 phosphorylation in differentiated postmitotic osteoblasts and cycling B cells.

Genetic health and prenatal diagnostics in clinical center Brcko District.

We report genetic counseling and prenatal diagnostics in the Obstetrics and Gynecology Department of the Clinical Center Brcko District (BiH) which works for more than 4 years in prevention of giving birth to children with hereditary diseases and congenital malformations. Pregnant women from Brcko District, Tuzla Canton and wider area of BiH underwent genetic counseling. In the period from 2003 to 2007, 1234 pregnant woman underwent amniocentesis and genetic counseling.

Prenatal diagnosis of Pallister-Killian syndrome in young woman: ultrasound indicators and confirmation by FISH.

We report the first case of Pallister-Killian syndrome diagnosed prenatally in Western Balkan region where one of the ultrasound markers was intrauterine growth restriction. During routine ultrasound control of the pregnancy at 21st gestation week (second pregnancy of the 25 year old woman) symmetrical intrauterine growth restriction (IUGR), short long bones, ventriculomegaly and oligoamnion were noted. Amniotic fluid was examined cytogenetically.

A novel role for the Aurora B kinase in epigenetic marking of silent chromatin in differentiated postmitotic cells.

Combinatorial modifications of the core histones have the potential to fine-tune the epigenetic regulation of chromatin states. The Aurora B kinase is responsible for generating the double histone H3 modification tri-methylated K9/phosphorylated S10 (H3K9me3/S10ph), which has been implicated in chromosome condensation during mitosis. In this study, we have identified a novel role for Aurora B in epigenetic marking of silent chromatin during cell differentiation.

Conserved patterns of gene expression in mice and goats in the vicinity of the Polled Intersex Syndrome (PIS) locus.

The PIS mutation is a genomic ~12-kb deletion affecting long-range gene transcription and causing XX sex reversal and hornlessness in goats by simultaneous long-range action on two genes, gPISRT1 and gFOXL2. In this study, a comparative human/mouse analysis of the orthologous region was carriedout, permittingthe targeting of genes in the 1-Mb environment, and identification of previously unknown mouse orthologues for Pisrt1, Bpesc1 and Chr3syt, and a human orthologue for PISRT1. PCR primers were defined and made it possible to analyse tissue-specific gene expression in mice and goats for 10 and 8 genes, respectively.

[Neuroleptic malignant syndrome with rhabdomyolysis and muscle rupture].

We report a case of neuroleptic malignant syndrome (NMS) development after the ingestion of 960 mg of haloperidol in 18-year old male on the previous long-term neuroleptic treatment. Beside the severe rigidity and laboratory signs of rhabdomyolysis, firm swelling of gluteal and femoral areas, accompanied by pain and difficulty in the extension of the right leg, was noticed. The ultrasonography of the affected limb revealed partial rupture of quadriceps muscle.

Arabidopsis SGS2 and SGS3 genes are required for posttranscriptional gene silencing and natural virus resistance.

Posttranscriptional gene silencing (PTGS) in plants resuits from the degradation of mRNAs and shows phenomenological similarities with quelling in fungi and RNAi in animals. Here, we report the isolation of sgs2 and sgs3 Arabidopsis mutants impaired in PTGS. We establish a mechanistic link between PTGS, quelling, and RNAi since the Arabidopsis SGS2 protein is similar to an RNA-dependent RNA polymerase like N.