Identifying autism loci and genes by tracing recent shared ancestry

To find inherited causes of autism-spectrum disorders, we studied families in which parents share ancestors, enhancing the role of inherited factors. We mapped several loci, some containing large, inherited, homozygous deletions that are likely mutations. The largest deletions implicated genes, including PCDH10 (protocadherin 10) and DIA1 (deleted in autism1, or c3orf58), whose level of expression changes in response to neuronal activity, a marker of genes involved in synaptic changes that underlie learning. A subset of genes, including NHE9 (Na+/H+ exchanger 9), showed additional potential mutations in patients with unrelated parents. Our findings highlight the utility of "homozygosity mapping" in heterogeneous disorders like autism but also suggest that defective regulation of gene expression after neural activity may be a mechanism common to seemingly diverse autism mutations.     

Regulation of the Amount of Starch in Plant Tissues by ADP Glucose Pyrophosphorylase

Starch, a major storage metabolite in plants, positively affects the agricultural yield of a number of crops. Its biosynthetic reactions use adenosine diphosphate glucose (ADPGlc) as a substrate; ADPGlc pyrophosphorylase, the enzyme involved in ADPGlc formation, is regulated by allosteric effectors. Evidence that this plastidial enzyme catalyzes a rate-limiting reaction in starch biosynthesis was derived by expression in plants of a gene that encodes a regulatory variant of this enzyme. Allosteric regulation was demonstrated to be the major physiological mechanism that controls starch biosynthesis. Thus, plant and bacterial systems for starch and glycogen biosynthesis are similar and distinct from yeast and mammalian systems, wherein glycogen synthase has been demonstrated to be the rate-limiting regulatory step.     

A patch—clamp study of the action of a nitromethylene heterocycle insecticide on cockroach neurones growing in vitro

The mode of action of a nitromethylene heterocycle (NMH) insecticide was studied by patch–clamp techniques using cockroach embryonic cultures as an experimental model. Under whole-cell recordings, this compound elicited inward currents resembling those induced by O-acetylcholine (ACh). The reversal potentials for both ACh and the NMH were similar, suggesting that the inward currents induced by both were carried by the same species of ion. Pharmacological investigations of NMH-induced responses revealed that the insecticidal action of this compound is exerted through agonistic action at the nicotinic acetylcholine receptor. Single-channel studies were also performed to study the interaction of NMH with the nicotinic-receptor-coupled ion channel.     

Diagnostic Methods for Evaluation of Stallion Subfertility: A Review

Classically, evaluation of the breeding stallion for reduced fertility has relied on physical examination of the reproductive system, as well as evaluation of sperm number, motility, and morphology. Over the past 20 years, a number of other diagnostic methods have become available to facilitate reproductive evaluation of the stallion. Specifically, ultrasound imaging has provided much-improved diagnostic methods for evaluation of the external and internal genitalia of the stallion, and these methods have now become routine in evaluation of the stallion. Biochemical analyses of semen can provide useful information for diagnosis of azoospermia (determination of alkaline phosphatase), detection of urine contamination, or changes in pH. Numerous sperm function assays provide information concerning subcellular compartments of the sperm including the plasma membrane, DNA, acrosome, and mitochondria. Data correlating these functional assays with fertility in the stallion are limited in most cases, with the exception of the sperm chromatin structure assay. Finally, the recent sequencing of the equine genome offers the possibility of both marker-assisted selection for fertility traits and more specific information about genetic mutations that may be associated with differing levels of fertility in the stallion.     

Elemental and redox analysis of single bacterial cells by x-ray microbeam analysis

High-energy x-ray fluorescence measurements were used to make elemental maps and qualitative chemical analyses of individual Pseudomonas fluorescens strain NCIMB 11764 cells. Marked differences between planktonic and adhered cells were seen in the morphology, elemental composition, and sensitivity to Cr(VI) of hydrated cells at spatial scales of 150 nm. This technology can be applied to natural geomicrobiological systems.     

The value of sea urchin,Lytechinus variegatus,egesta consumed by shrimp,Litopenaeus vannamei

Sea urchins produce high‐energy, membrane‐bound fecal pellets that contain residual nutrients and large quantities of microbiota. These egesta are readily consumed by the shrimp, Litopenaeus vannamei. Egesta of the sea urchin, Lytechinus variegatus, were evaluated as a feed supplement or total replacement for a commercial shrimp diet. Shrimp were stocked at 0.49 g ± 0.06 g initial body weight and housed individually in 2.8‐L tanks in a commercial recirculating zebrafish system. Shrimp were assigned to one of six diets: commercial shrimp feed, reference sea urchin feed, collected dried sea urchin egesta, collected wet sea urchin egesta, half ration of shrimp feed and half collected wet sea urchin egesta, and egesta naturally produced by two sea urchins in polyculture. Equivalent dry matter amounts of each diet were proffered to shrimp in each treatment twice daily, except for those that had complete access to natural egesta excreted by sea urchins in polyculture. Sea urchins were proffered a reference sea urchin feed at 2% body weight daily. After 27 days, shrimp proffered collected dried or wet egesta did not differ significantly in percent weight gain and showed the lowest weight gain. The percent weight gain of shrimp fed the commercial shrimp diet did not differ significantly from that of the shrimp fed half commercial shrimp diet and half egesta. The highest weight gain was recorded for those shrimp that consumed the untouched egesta produced by sea urchins in polyculture. These data suggest that consumed egesta have noteworthy nutritional value and therefore would be beneficial to the culture of extractive species in an integrated multitrophic aquaculture system.     

Serum lipase determination in the dog: a comparison of a titrimetric method with an automated kinetic method

An enzymatic, kinetic method for determining serum lipase activity was evaluated and compared to a standard manual method for use in dogs. The kinetic method was a commercial kit adapted for use on a tandem access clinical chemistry analyzer and utilized a series of coupled enzymatic reactions based on the hydrolysis of 1,2-diglyceride by lipase. The manual method was the Cherry-Crandall technique based on the titration of base against the acid formed by hydrolysis of an olive oil substrate by lipase. The correlation between the two methods was very good (r = 0.94). The reference range for 56 clinically healthy dogs assayed by the kinetic method was 90 to 527 U/L. Diseases associated with a greater than twofold elevation in serum lipase activity as determined by the kinetic method included pancreatitis, gastritis with liver disease, and oliguric renal failure with metabolic acidosis. In some cases, pancreatitis was seen with other clinical problems, such as gastroenteritis, diabetic ketoacidosis, duodenal mass, disseminated intravascular coagulation, and septic peritonitis. Diseases associated with serum lipase activity within the reference range or elevated less than twofold included gastritis, gastric ulcer, cholestasis, phenobarbital-induced hepatopathy, colitis, copper hepatopathy, abdominal hematoma, apocrine gland adenocarcinoma, and thrombocytopenia with pneumonia.