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Is there a role for the nuclear export factor 2 gene in male infertility? Vrije Universiteit Brussel

Katrien Stouffs, Herman Tournaye, Josiane Van Der Elst, Willy Lissens

OBJECTIVE: To determine the presence of mutations in the NXF2 gene of patients with nonobstructive azoospermia.

DESIGN: Molecular analysis of male infertility.

SETTING: University genetic laboratory and reproductive clinic.

PATIENT(S): Sixty-five patients with Sertoli cell-only syndrome (SCOS) and 20 control men.

INTERVENTION(S): Polymerase chain reaction, sequencing analysis, RNA extraction, and reverse ...

Bromodomain and extra-terminal (BET) bromodomain inhibition activate transcription via transient release of positive transcription elongation factor b (P-TEFb) from 7SK small nuclear ribonucleoprotein Instituut voor Tropische Geneeskunde

Koen Bartholomeeusen, Yanhui Xiang, Koh Fujinaga, B Matija Peterlin

By phosphorylating elongation factors and the C-terminal domain of RNA polymerase II, the positive transcription elongation factor b (P-TEFb) is the critical kinase for transcription elongation and co-transcriptional processing of eukaryotic genes. It exists in inactive small nuclear ribonucleoprotein (7SK snRNP) and active (free P-TEFb) complexes in cells. The P-TEFb equilibrium determines the state of cellular activation, proliferation, and ...

Hepatocyte nuclear factor (HNF)1A and HNF4A substitution occurring simultaneously in a family with maturity-onset diabetes of the young Vrije Universiteit Brussel

Hanneke Beijers, M. Losekoot, R.j. Odink, Bert Bravenboer
Introduction

Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes mellitus characterized by an early age at onset, autosomal dominant inheritance and a primary defect in the function of the B-cells of the pancreas. We report a family with two members carrying a substitution in both the hepatocyte nuclear factor (HNF)1A and HNF4A gene simultaneously.

Case report

A 39-year-old man was ...

DNA polymorphism and epigenetic marks modulate the affinity of a scaffold/matrix attachment region to the nuclear matrix Vrije Universiteit Brussel

Natalia P Kisseljova, Petr Dmitriev, Alexey Katargin, Elena Kim, Daria Ezeriņa, Diana Markozashvili, Daria Malysheva, Emmeline Planche, Richard J L F Lemmers, Silvère M van der Maarel, et al.

Mechanisms that regulate attachment of the scaffold/matrix attachment regions (S/MARs) to the nuclear matrix remain largely unknown. We have studied the effect of simple sequence length polymorphism (SSLP), DNA methylation and chromatin organization in an S/MAR implicated in facioscapulohumeral dystrophy (FSHD), a hereditary disease linked to a partial deletion of the D4Z4 repeat array on chromosome 4q. This FSHD-related nuclear matrix ...

Release of positive transcription elongation factor b (P-TEFb) from 7SK small nuclear ribonucleoprotein (snRNP) activates hexamethylene bisacetamide-inducible protein (HEXIM1) transcription Instituut voor Tropische Geneeskunde

Pingyang Liu, Yanhui Xiang, Koh Fujinaga, Koen Bartholomeeusen, Kyle A Nilson, David H Price, B Matija Peterlin

By phosphorylating negative elongation factors and the C-terminal domain of RNA polymerase II (RNAPII), positive transcription elongation factor b (P-TEFb), which is composed of CycT1 or CycT2 and CDK9, activates eukaryotic transcription elongation. In growing cells, it is found in active and inactive forms. In the former, free P-TEFb is a potent transcriptional coactivator. In the latter, it is inhibited by HEXIM1 or HEXIM2 in the 7SK small ...

Exploring the potential role of four Rhizophagus irregularis nuclear effectors : opportunities and technical limitations Universiteit Gent Vlaams Instituut voor Biotechnologie KU Leuven

María Victoria Aparicio Chacón, Sofía Hernández Luelmo, Louis Robichez, Toon Leroy, Naomi Stuer, Annick De Keyser, Evi Ceulemans, Alain Goossens, Sofie Goormachtig, Judith Van Dingenen, et al.
Arbuscular mycorrhizal fungi (AMF) are obligate symbionts that interact with the roots of most land plants. The genome of the AMF model species Rhizophagus irregularis contains hundreds of predicted small effector proteins that are secreted extracellularly but also into the plant cells to suppress plant immunity and modify plant physiology to establish a niche for growth. Here, we investigated the role of four nuclear-localized putative ...

Pannexin-1 channel regulates nuclear content packaging into apoptotic bodies and their size Universiteit Gent

Thanh Kha Phan, Pamali Fonseka, Rochelle Tixeira, Mohashin Pathan, Ching-Seng Ang, Dilara Ceyda Ozkocak, Suresh Mathivanan, Ivan Ka Ho Poon
Apoptotic bodies (ApoBDs), which are large extracellular vesicles exclusively released by apoptotic cells, possess therapeutically exploitable properties including biomolecule loadability and transferability. However, current limited understanding of ApoBD biology has hindered its exploration for clinical use. Particularly, as ApoBD-accompanying cargoes (e.g., nucleic acids and proteins) have major influence on their functionality, further ...

Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies Universiteit Gent Universiteit Antwerpen

Winnok De Vos, Frederik Houben, Miriam Kamps, Ashraf Malhas, Fons Verheyen, Juliën Cox, Erik Manders, Valerie LRM Verstraeten, Maurice AM van Steensel, Carlo LM Marcelis, et al.
The nuclear lamina provides structural support to the nucleus and has a central role in nuclear organization and gene regulation. Defects in its constituents, the lamins, lead to a class of genetic diseases collectively referred to as laminopathies. Using live cell imaging, we observed the occurrence of intermittent, non-lethal ruptures of the nuclear envelope in dermal fibroblast cultures of patients with different mutations of lamin A/C. These ...

Development of artificial nuclear receptors, the synthetic yeast approach KU Leuven

Roy Eerlings
The field of synthetic biology has demonstrated to be a valuable tool in research as well as in medical and industrial applications. Nowadays, it's not only possible to replace an organism's genetic material with synthetic DNA but also to engineer the function of that synthetic DNA and establish genetic circuits that respond to either external or internal stimuli. A well-characterized orthogonal sensing system is the ON-switch, which induces ...

Chromatin attachment to the nuclear matrix represses hypocotyl elongation in Arabidopsis thaliana Universiteit Gent

Linhao Xu, Shiwei Zheng, Katja Witzel, Eveline Van De Slijke, Alexandra Baekelandt, Evelien Mylle, Daniël Van Damme, Jinping Cheng, Geert De Jaeger, Dirk Inzé, et al.
The nuclear matrix is a nuclear compartment that has diverse functions in chromatin regulation and transcription. However, how this structure influences epigenetic modifications and gene expression in plants is largely unknown. In this study, we show that a nuclear matrix binding protein, AHL22, together with the two transcriptional repressors FRS7 and FRS12, regulates hypocotyl elongation by suppressing the expression of a group of genes known ...