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1.  Pleiotropic effects on subclasses of HDL, adiposity and glucose metabolism in adult Alaskan Eskimos 
The aim of the present study was to analyze the heritability and the presence of pleiotropic effects on subfractions of high density lipoproteins (HDLs) as measured by nuclear magnetic resonance (NMR), parameters for adiposity and glucose metabolism in adult Alaskan Eskimos. The present family study included 1214 adult Alaskan Eskimos (537 male/677 female). Body weight, height, circumferences, selected skinfolds and blood pressure were measured in all participants. Blood samples were collected under fasting conditions for isolation of plasma. Glucose, insulin, subclasses and size of lipoproteins, triglycerides, total and HDL cholesterol and lipoprotein (a) were measured in plasma. HbA1c was measured in total blood. Univariate and bivariate quantitative genetic analyses were conducted between HDL subclasses and size and the anthropometric and biochemical measures using the variance decomposition approach. Variation in all the analyzed traits exhibits a significant genetic component. Heritabilities ranged between 0.18 ± 0.11 for LDL2 (intermediate) to 0.89 ± 0.07 for small HDL. No common genetic effects were found on the HDL subclasses (small, intermediate and large). Small HDL particles were genetically correlated with LDL particles and HbA1c. Negative genetic correlations were observed between intermediate and large HDL subfractions and HDL size and measures of adiposity, LDL and parameters for glucose metabolism (HbA1, insulin). These observations confirm the presence of possible pleiotropic effects on HDL, adiposity and cardiovascular risk factors and provide novel insight on the relationship between HDL subclasses, adiposity and glucose regulation.
PMCID: PMC3461838  PMID: 19950191
2.  Xylan-degrading enzymes in male and female flower nectar of Cucurbita pepo 
Annals of Botany  2011;108(3):521-527.
Background and Aims
Nectar is a very complex mixture of substances. Some components (sugars and amino acids) are considered primary alimentary rewards for animals and have been investigated and characterized in numerous species for many years. In contrast, nectar proteins have been the subject of few studies and little is known of their function. Only very recently have detailed studies and characterization of nectar proteins been undertaken, and then for only a very few species. This current work represents a first step in the identification of a protein profile for the floral nectar of Cucurbita pepo. In this regard, the species studied is of particular interest in that it is monoecious with unisexual flowers and, consequently, it is possible that nectar proteins derived from male and female flowers may differ.
Manually excised spots from two-dimensional (2-D) electrophoresis were subjected to in-gel protein digestion. The resulting peptides were sequenced using nanoscale LC–ESI/MS-MS (liquid chromatography–electrospray ionization/tandem mass spectrometry). An MS/MS ions search was carried out in Swiss-Prot and NCBInr databases using MASCOT software.
Key Results
Two-dimensional electrophoresis revealed a total of 24 spots and a different protein profile for male and female flower nectar. Four main proteins recognized by 2-D electrophoresis most closely resemble β-d-xylosidases from Arabidopsis thaliana and have some homology to a β-d-xylosidase from Medicago varia. They were present in similar quantities in male and female flowers and had the same molecular weight, but with slightly different isoelectric points.
A putative function for xylosidases in floral nectar of C. pepo is proposed, namely that they may be involved in degrading the oligosaccharides released by the nectary cell walls in response to hydrolytic enzymes produced by invading micro-organisms. Several types of oligosaccharides have been reported to increase the pathogenic potential of micro-organisms. Thus, it is possible that such a mechanism may reduce the virulence of pathogens present in nectar.
PMCID: PMC3158684  PMID: 21813563
Cucurbita pepo; nectar; proteins; defence; xylan-degrading enzymes
5.  High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility 
Molecular Psychiatry  2009;15(9):954-968.
Autism spectrum disorders are a group of highly heritable neurodevelopmental disorders with a complex genetic etiology. The International Molecular Genetic Study of Autism Consortium previously identified linkage loci on chromosomes 7 and 2, termed AUTS1 and AUTS5, respectively. In this study, we performed a high-density association analysis in AUTS1 and AUTS5, testing more than 3000 single nucleotide polymorphisms (SNPs) in all known genes in each region, as well as SNPs in non-genic highly conserved sequences. SNP genotype data were also used to investigate copy number variation within these regions. The study sample consisted of 127 and 126 families, showing linkage to the AUTS1 and AUTS5 regions, respectively, and 188 gender-matched controls. Further investigation of the strongest association results was conducted in an independent European family sample containing 390 affected individuals. Association and copy number variant analysis highlighted several genes that warrant further investigation, including IMMP2L and DOCK4 on chromosome 7. Evidence for the involvement of DOCK4 in autism susceptibility was supported by independent replication of association at rs2217262 and the finding of a deletion segregating in a sib-pair family.
PMCID: PMC2934739  PMID: 19401682
autistic disorder; disease susceptibility; single nucleotide polymorphisms; linkage disequilibrium; chromosome 7; chromosome 2

Results 1-5 (5)