The Huntington's disease candidate region exhibits many different haplotypes.

Analysis of 78 Huntington's disease (HD) chromosomes with multi-allele markers revealed 26 different haplotypes, suggesting a variety of independent HD mutations. The most frequent haplotype, accounting for about one third of disease chromosomes, suggests that the disease gene is between D4S182 and D4S180. However, the paucity of an expected class of chromosomes that can be related to this major haplotype by assuming single crossovers may reflect the operation of other mechanisms in creating haplotype diversity. Some of these mechanisms sustain alternative scenarios that do not require a multiple mutational origin for HD and/or its positioning between D4S182 and D4S180.     

Specific binding of antigenic peptides to cell-associated MHC class I molecules

T lymphocytes recognize antigen in the form of peptides that associate with specific alleles of class I or class II major histocompatibility (MHC) molecules. By contrast with the clear MHC allele-specific binding of peptides to purified class II molecules purified solubilized class I molecules either bind relatively poorly or show degenerate specificity. Using photo-affinity labelling, we demonstrate here the specific interaction of peptides with cell-associated MHC class I molecules and show that this involves metabolically active processes.     

Genetic and photoperiodic control of an avian reproductive cycle

European blackcaps,Sylvia atricapilla, with one breeding season per year, have a single-peaked annual testes cycle. However, African conspecifics from the Cape Verde Islands with two breeding seasons per annum demonstrate a two-peaked cycle. Both population-specific cycles reflect differences in the respective endogenous circannual rhythms. Experimental hybridization of birds of the two populations resulted in an intermediate pattern of testes cycle, thus demonstrating that there are genetic components for some temporal aspects in an avian reproductive cycle. Another characteristic of the African birds, their extremely rapid juvenile development and early sexual maturity (at an age of 5–6 months) proved largely to be a photoperiodic (short-day) effect in birds hatched in autumn. The same effect could also be induced in European conspecifics exposed to correspondingly short day-lengths.     

Characterization of the rough endoplasmic reticulum ribosome-binding activity.

The rough endoplasmic reticulum membranes of mammalian cells contain specific ribosome-binding sites. A purification to apparent homogeneity of a negatively charged protein (ERp180) of relative molecular mass 180,000 (180 K) was reported which was proposed to function as a rough endoplasmic reticulum ribosome receptor. We report here that ribosome-binding site activity quantitatively solubilized from rough endoplasmic reticulum membranes does not cofractionate with ERp180. By contrast, ribosome-binding site activity fractionates as a much smaller, positively charged protein.     

Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans

More than a billion humans worldwide are predicted to be completely deficient in the fast skeletal muscle fiber protein alpha-actinin-3 owing to homozygosity for a premature stop codon polymorphism, R577X, in the ACTN3 gene. The R577X polymorphism is associated with elite athlete status and human muscle performance, suggesting that alpha-actinin-3 deficiency influences the function of fast muscle fibers. Here we show that loss of alpha-actinin-3 expression in a knockout mouse model results in a shift in muscle metabolism toward the more efficient aerobic pathway and an increase in intrinsic endurance performance. In addition, we demonstrate that the genomic region surrounding the 577X null allele shows low levels of genetic variation and recombination in individuals of European and East Asian descent, consistent with strong, recent positive selection. We propose that the 577X allele has been positively selected in some human populations owing to its effect on skeletal muscle metabolism.     

Hydrobiologische Anstalt Plön der Max-Planck-Gesellschaft zur Förderung der Wissenschaften

Ohne Zusammenfassung     

Réactions cytologiques à l'introduction pulmonaire expérimentale de particules de silicium métalloïdique

Summary By means of intratracheal injection, particles of metalloid silicium about five microns in size are introduced into the lungs of guinea pigs, and the secondary parenchymatous reactions are studied from 10 minutes to 105 days. In the dust cells, the silicium is progressively broken up into very small particles of less than 1 micron in size. The cells do not show degeneration or mummification as the ordinary silica cells (Mavrogordato) do.