Methylation of the PTENP1 pseudogene as potential epigenetic marker of age-related changes in human endometrium.

The processed pseudogene PTENP1 is involved in the regulation of the expression of the PTEN and acts as a tumor suppressor in many types of malignances. In our previous study we showed that PTENP1 methylation is present not only in tumor, but also in normal endometrium tissues of women over 45 years old. Here we used methylation-specific PCR to analyze methylation status of CpG island located near promoter region of PTENP1 in malignant and non-malignant endometrium tissues collected from 236 women of different age groups.

Pseudogenes as Functionally Significant Elements of the Genome.

Pseudogene is a gene copy that has lost its original function. For a long time, pseudogenes have been considered as "junk DNA" that inevitably arises as a result of ongoing evolutionary process. However, experimental data obtained during recent years indicate this understanding of the nature of pseudogenes is not entirely correct, and many pseudogenes perform important genetic functions.

The PTENP1 Pseudogene, Unlike the PTEN Gene, Is Methylated in Normal Endometrium, As Well As in Endometrial Hyperplasias and Carcinomas in Middle-Aged and Elderly Females.

The tumor suppressor PTEN controls multiple cellular functions, including cell cycle, apoptosis, senescence, transcription, and mRNA translation of numerous genes. In tumor cells, PTEN is frequently inactivated by genetic mutations and epimutations. The aim of this study was to investigate the methylation patterns of the gene and its pseudogene as potential genetic markers of endometrial hyperplasia (EH) and endometrial carcinoma (EC).

[Intracardiac Thrombosis in a Child With Hereditary Thrombophilia].

A child who had undergone subclavian vein catheterization in the neonatal period was hospitalized in a grave condition at the age of 1 year 7 months with echocardiographic signs of right ventricular thrombus. Further examination revealed low level of protein C and mutations in methylenetetrahydrofolate reductase and plasminogen activator inhibitor-1 genes. Basing on this observation, the authors recommend purposeful search for genetic thrombophilia in children with history of prolonged catheterization of veins and prophylactic anticoagulation therapy in case of positive result.

Functions of noncoding sequences in mammalian genomes.

Most of the mammalian genome consists of nucleotide sequences not coding for proteins. Exons of genes make up only 3% of the human genome, while the significance of most other sequences remains unknown. Recent genome studies with high-throughput methods demonstrate that the so-called noncoding part of the genome may perform important functions.