A Non-Synonymous HMGA2 Variant Decreases Height in Shetland Ponies and Other Small Horses

The identification of quantitative trait loci (QTL) such as height and their underlying causative variants is still challenging and often requires large sample sizes. In humans hundreds of loci with small effects control the heritable portion of height variability. In domestic animals, typically only a few loci with comparatively large effects explain a major fraction of the heritability. We investigated height at withers in Shetland ponies and mapped a QTL to ECA 6 by genome-wide association (GWAS) using a small cohort of only 48 animals and the Illumina equine SNP70 BeadChip. Fine-mapping revealed a shared haplotype block of 793 kb in small Shetland ponies. The HMGA2 gene, known to be associated with height in horses and many other species, was located in the associated haplotype. After closing a gap in the equine reference genome we identified a non-synonymous variant in the first exon of HMGA2 in small Shetland ponies. The variant was predicted to affect the functionally important first AT-hook DNA binding domain of the HMGA2 protein (c.83G>A; p.G28E). We assessed the functional impact and found impaired DNA binding of a peptide with the mutant sequence in an electrophoretic mobility shift assay. This suggests that the HMGA2 variant also affects DNA binding in vivo and thus leads to reduced growth and a smaller stature in Shetland ponies. The identified HMGA2 variant also segregates in several other pony breeds but was not found in regular-sized horse breeds. We therefore conclude that we identified a quantitative trait nucleotide for height in horses.     

Activity of Mg2+-ATPase and cytochrome c-Oxidase in microsporocytes and anther wall during microsporogenesis inLarix europaea D.C.

Studies have been made on the activity of two mitochondrial enzymes, Mg²⁺ ATPase (E.C.3.6.1.3.) and cytochrome c-oxidase (E.C.I.9.3.2.) in microsporocytes and somatic cells of anther in larch. The material for study were homogeneous fractions of microsporocytes from 15 stages of meiosis and the attendant anther somatic cells. The results have demonstrated that cells undergoing meiosis exhibit considerable mitochondrial metabolic activity. It is characterized by considerable variations in the activity level of both enzymes studied. The level and dynamics of variations of Mg²⁺-ATPase and cytochrome c-oxidase activity in microsporocytes are clearly different from those in the anther somatic cells. The cytochrome c-oxidase activity in microsporocytes throughout microsporogenesis is higher compared with that in the anther wall cells, whereas the Mg²⁺-ATPase activity in microsporocytes averagesca. one half that in the anther somatic cells The dynamics of activity variations of the enzymes under study suggests enhanced mitochondrial metabolism in the period of middle diplotene and young dyad. This result supports the thesis following from our earlier studies that the middle diplotene and young dyad constitute specific metabolic switches in microsporogenesis in larch.     

Immunochemical and biological studies of antigens isolated from a strain of Bacteroides fragilis

Phenol/water-extracted lipopolysaccharide and a fraction HM, extracted with acetate buffer pH 2.0, from Bacteroides fragilis strain 62/73 are antigenically different as shown by immunodiffusion, passive haemagglutination, haemagglutination inhibition and preliminary chemical investigations. Biological activity, assessed with the local Shwartzmann reaction, was demonstrated for the lipopolysaccharide whereas antigen HM was almost inactive in this test. HM is immunogenic in rabbits. Antibodies against HM were detected in seven out of ten sera of healthy humans.     

Familial translocation t(1p-;21q+) associated with Down's syndrome

Summary Familial occurrence of 1/21 translocation in connection with trisomy 21 was described. The possibilities of inheritance of further chromosome rearrangements arising during the gametogenesis of persons with this translocation were considered.     

Does the weight of the brain depend on the body height?]

Brains of 1664 subjects (895 males and 769 females) aged from 20 to 89 years have been studied. The whole material being investigated was divided, within sex groups, into body-height classes and age classes. The class interval within the age classes was 10 years, that in height classes 5 cm. Mean arithmetics, standard deviations, standard error as well as coefficients of variation and correlation for respective classes have been calculated. It has been ascertained that the brain weight depends on the body height. In tall subjects no brains of extremely low absolute weight are encountered and, adversely, high brain weight is seldom met in short individuals. The body height also exerts certain influence upon the relative weight of the brain. More favourable proportion between the brain weight and the body length has been revealed in short subjects. Tall individuals are characterized by a low relative weight of the brain. It should be supposed that the spinal cord weight is higher in the latter subjects. The differences between the mean absolute weight of women's brains and that in men of the same age class are conditioned by the difference in the body length. A constant magnitude of difference in the mean brain weight in subjects of the same body height claims 100 g. The paper provides 2 enclosed tables representing obtained results for arithmetic mean of the absolute brain weight both in the age classes and body height classes. The differences between the mean weights of brains in women as well as in men are not significant. The coefficient of correlation between the brain weight and the body height is for men r male1 = 0.2008 for women r female1 = 0.2630, wherease the coefficient of regression for the brain weight is r male2 = 3.67 and r female2 = 3.906 respectively.