A non-human primate BAC resource to study interchromosomal segmental duplications.

Segmental duplications (SDs) are involved in the reshaping and evolutionary development of primate genome architecture. Their intrinsic property to promote genomic instability facilitates genome rearrangements, thereby contributing to karyotype diversity in primates. However, comparative analyses of SDs based on whole-genome shotgun assemblies of primate genomes may lead to a distorted view of their evolutionary dynamics as this method will incorrectly assemble or simply not represent these regions. Therefore high-quality sequences of chromosomally assigned SDs are indispensable for unraveling the amplification and dispersal pattern of SDs during primate evolution. Here, we use an updated version of the ancestral duplicon state of the non-palindromic SDs of all 4 human Y-chromosome euchromatin/heterochromatin transition regions to perform a survey of duplicons genome-wide across 7 primate species. By adjusting experimental conditions to the mean nucleotide sequence divergence to human we identified 11,075 BAC clones carrying primate orthologs or paralogs of human Y chromosome-derived duplicons. Preliminary results indicate lineage-specific amplification of duplicons in prosimians and gibbons. This BAC-based framework represents the first complete set of a defined number of duplicons over 60 million years of primate evolution. Comparative sequence analysis of this genetic resource can contribute to our deeper understanding of the impact of segmental duplications on primate genome evolution.

[Eating behavior, diabetes and weight control in girls with insulin-dependent diabetes mellitus (type 1)]. / Essverhalten, Diabetes- und Gewichtskontrolle bei Mädchen mit insulinpflichtigem Diabetes mellitus (Typ 1).

The object of the study was, first, to investigate whether girls suffering from insulin-dependent diabetes mellitus (IDDM) are more overweight than an age- and puberty-matched control group and, second, to study the impact of diet, calorie intake and pubertal stage on body mass index (BMI), body weight and fat content. We studied 43 girls with IDDM and controls, divided into two age groups: group 1 (n = 21; 10-13 years) and group 2 (n = 22; > 13 years, 13.1-20.7 years). Overweight was assessed by BMI, relative weight and body fat from skinfold thickness. Food consumption data were collected over a one week food and drink protocol. The diabetic girls, particularly those after puberty, were more overweight than the controls. Although the calorie intake was increased compared with their peers, the proportions of energy derived from protein, fat and carbohydrate were as recommended by the American and Swiss Diabetes Association. Most importantly, the recommended proportion of saturated fatty acids (< 10%) was not achieved by either the diabetic patients or the control girls. Insulin dose/unit body weight correlated with BMI and fat content. Therefore, the increased insulin dose may be responsible for the relatively increased energy intake and, in addition, increased intake of saturated fatty acid which has been related to poor metabolic control and obesity. The food intake of the control girls was identical to that reported in adults by the Swiss Government in 1991 in the Third Report on Food Consumption.