New mitochondrial carriers: an overview

The transport of metabolites, nucleotides and cofactors across the mitochondrial inner membrane is performed by members of mitochondrial carrier family (MCF). These proteins share marked structural features that have made feasible the functional characterization of numerous MCs in the last years. The MCs responsible for transport activities in mitochondria known for decades such as glutamate uptake or ATP-Mg/Pi exchange have recently been identified as well as novel carriers such as those involved in S-adenosylmethionine or thiamine pyrophosphate uptake. Here, after a brief review of the novel data on structural characteristics and import mechanisms of MCF members, we present an exhaustive compilation of human MC sequences, including previously characterized carriers, together with their respective Saccharomyces cerevisiae orthologues, ordered according to the phylogenetic analysis of el Moualij and co-workers [Yeast (1997) 13: 573-581]. We have detected the existence of at least 49 human MC sequences, including those of yet unknown function. An overview of novel MCF members functionally characterized in recent years in mammals and in yeast genomes is presented.     

Nonsense suppression therapies in human genetic diseases

Cellular and Molecular Life Sciences - About 11% of all human disease-associated gene lesions are nonsense mutations, resulting in the introduction of an in-frame premature translation-termination...     

New mechanism for regulation of genetic expression

DNA sequence studies of mutated and wild type alleles of an intron in the mosaic mitochondrial gene for cytochrome b have revealed the possible existence of a protein coded in the intron and involved in RNA splicing. This protein would be endowed with properties of intrinsic autotomy of its own messenger RNA.     

Seasonal heteroscedasticity and trends

This paper discusses the possibility of accommodating features such as seasonal heteroscedasticity and trends in a seasonal model. The former takes place when one or more seasonal effects are more variable than others and it is quite pervasive in hydrology, although interesting examples are found in economics, where it has recently been shown to characterize the output of the manufacturing series; seasonal trends occur when the seasonal effect shows a systematic tendency to increase or decrease its amplitude over the years. We consider different models of seasonality available in the literature and we argue that the Harrison and Stevens seasonal model enhances the flexibility that is necessary to capture effects associated to particular seasons. The resulting seasonally heteroscedastic model provides an explanation for the periodicity in the series alternative to that provided by the literature on periodic integration. © 1998 John Wiley & Sons, Ltd.     

Testing of rifampicin on possible genetic effects onDrosophila melanogaster and human leukocyte chromosomes in vitro

Zusammenfassung Mutagenitätsuntersuchungen von Rifampicin anDrosophila melanogas (X-chromosomale rezessive Letalmutationen) und an menschlichen Leukozytenchromosomen in vitro ergaben keine Anhaltspunkte für eine genetische Wirksamkeit dieser Substanz.

---

---

We thank Mrs.R. Pieper for her carful technical assistance. We are also grateful to ProfessorR. Hess and Dr.J. Gelzer (Ciba-Geigy, Basel) for the supply of rifampicin.     

Modelling trends in central England temperatures

Trends are extracted from the central England temperature (CET) data available from 1723, using both annual and seasonal averages. Attention is focused on fitting non‐parametric trends and it is found that, while there is no compelling evidence of a trend increase in the CET, there have been three periods of cooling, stability, and warming, roughly associated with the beginning and the end of the Industrial Revolution. There does appear to have been an upward shift in trend spring temperatures, but forecasting of current trends is hazardous because of the statistical uncertainty surrounding them. Copyright © 2003 John Wiley & Sons, Ltd.     

Some trends in medical populations genetics

Summary Five topics concerning medical population genetics have been selected for discussion: in the field of population cytogenetics, the frequency of chromosomal aberrations and the roles of mutation and selection in the maintenance of balanced rearrangements are studied; the long term genetic effects of treatment and prevention of genetic diseases are reviewed; the relationships between malaria and the sickle-cell trait are discussed; some recent works concerning human DNA polymorphisms in the field of population, genetics are presented, and finally, some methods of genetic epidemiology are described.