Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language Impairment

Contains fulltext : 144496.pdf (publisher's version ) (Open Access)Children affected by Specific Language Impairment (SLI) fail to acquire age appropriate language skills despite adequate intelligence and opportunity. SLI is highly heritable, but the understanding of underlying genetic mechanisms has proved challenging. In this study, we use molecular genetic techniques to investigate an admixed isolated founder population from the Robinson Crusoe Island (Chile), who are affected by a high incidence of SLI, increasing the power to discover contributory genetic factors. We utilize exome sequencing in selected individuals from this population to identify eight coding variants that are of putative significance. We then apply association analyses across the wider population to highlight a single rare coding variant (rs144169475, Minor Allele Frequency of 4.1% in admixed South American populations) in the NFXL1 gene that confers a nonsynonymous change (N150K) and is significantly associated with language impairment in the Robinson Crusoe population (p = 2.04 x 10-4, 8 variants tested). Subsequent sequencing of NFXL1 in 117 UK SLI cases identified four individuals with heterozygous variants predicted to be of functional consequence. We conclude that coding variants within NFXL1 confer an increased risk of SLI within a complex genetic model

Speckle interferometry at the US Naval Observatory. VIII

The results of 2044 speckle interferometric observations of double stars, made with the 26 inch (66 cm) refractor of the US Naval Observatory, are presented. Each speckle interferometric observation of a system represents a combination of over a thousand short-exposure images. These observations are averaged into 1399 mean positions and range in separation from 0″.16 to 14″.97, with a mean separation of 2″.51. This is the eighth in a series of papers presenting measures obtained with this system and covers the period 2001 March 18 through 2001 December 30.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Influência do grão de sorgo como fonte de amido em ovinos alimentados com feno: parâmetros plasmáticos Influence of sorghum grain as a source of starch in sheep fed hay: plasma parameters

O objetivo deste trabalho experimental foi verificar a influência de diferentes níveis de grão de sorgo, como fonte de amido, nos parâmetros plasmáticos em ovinos alimentados com feno de capim-elefante (Pennisetum purpureum Schum). O sorgo foi utilizado em quatro níveis na dieta: 0, 15, 30 e 45%. Foram usados 12 ovinos machos castrados distribuídos em quatro tratamentos com três repetições. Foram coletadas seis amostras de sangue por animal logo antes da refeição da manhã (hora zero) e 1, 2, 3, 4, 6 e 8 horas após. O delineamento experimental foi o completamente casualizado. A 1ª hora após a refeição apresentou a maior concentração plasmática de uréia (53,3 mg/100 mL) e foi superior à 6ª e 8ª hora (49,5 e 49,3 mg/100 mL). A maior concentração de uréia no plasma coincidiu com a maior concentração de amônia no líquido ruminal. O tratamento com 30% de sorgo na dieta apresentou concentração plasmática de glicose de 81,0 mg/100 mL e foi superior ao tratamento testemunha (60,4 mg/100 mL). A concentração de insulina variou entre tratamentos para cada hora de coleta após a refeição, de acordo com os níveis de sorgo na dieta. O tratamento com 45% de sorgo apresentou a maior concentração do hormônio no plasma. Observou-se para todos os tratamentos um pico de produção do hormônio na 4ª hora após a refeição.<br>The objective of this experimental work was to evaluate the influence of different levels of sorghum grain, as a source of starch, on the plasma parameters of sheep fed elephant grass hay (Pennisetum purpureum Schum). Sorghum grain was included in the diet at four levels: 0, 15, 30 e 45%. Twelve castrated male sheep were assigned to four treatments with three replicates. Six samples of blood per animal were collected just before the morning feeding (zero hour) and after 1, 2, 3, 4, 6 and 8 hours. A completely randomized design was used. The first hour after feeding showed the highest plasma concentration of urea (53.3 mg/100 mL) and was higher than the six and eight-hour samples (49.5 and 49.3 mg/100 mL). The higher concentration of urea in the plasma coincided with the highest concentration of ammonia in the ruminal liquor. Treatment including 30% sorghum in the diet showed a glucose plasmatic concentration of 81,0 mg/100 mL and was superior to the control treatment (60.4 mg/100 mL). Insulin concentration varied among treatments for each hour of collection after feeding according to the levels of sorghum in the diet. The treatment that included 45% sorghum grain showed the highest concentration of this hormone in the plasma. It was observed a peak of the insulin production at the four-hour after feeding