49 research outputs found

    Finishing the euchromatic sequence of the human genome

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    The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

    Informal Writing Instruction and Dramatic Play to Support Kindergarten Children’s Language and Writing Development

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    This paper describes children’s and their teacher’s interactions in a northern Alberta kindergarten class where the teacher took up a role as a kindergarten student learning to write, as well as roles in dramatic play that allowed her to introduce authentic use of texts. In these informal writing instructional contexts, the teacher used verbal and nonverbal modes to communicate about text creation and directed children’s behaviour, as has been found in studies of formal writing instruction. However, she also used language for affiliative purposes and created space for children to engage in frequent communication using verbal and nonverbal modes. The children created a wide range of texts, some using scribbles and drawing to communicate meaning and others using print and drawing.&nbsp

    Blood Conservation during Open Heart Surgery in Infants and Children

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    We studied 211 consecutive patients (age 1/12 to 18 7/12 years, median 2 3/12 years; weight 2 to 70 kg., median 11.2 kg.) undergoing cardiopulmonary bypass (CPB) for repair of congenital heart defects from September 1978 to September 1982 to determine blood used at surgery and within 48 hours of operation. There were 10/211 (4.7%) peri-operative deaths and 21 patients bled more than 500 cc from chest tubes during the first twelve hours post-op; 4 ( 4/211 = 1.9%) required re-exploration. This left 180 uncomplicated cases. From 1978 to 1982: (1) The average number of units of packed red blood cells (PRC) used per patient decreased from 4.3 to 1.9 for the entire patient population and from 4.1 to 1.2 for uncomplicated cases; (2) the average number of PRC units used for CPB prime decreased from 1.9 to 0.5; and (3) average end-CPB hematocrit decreased from 27.9 to 22.6%. All differences are highly significant (p 0.001). Peri-operative and postoperative morbidity were unchanged over the course of the study. In 1982, 23/48 (48%) cases used nonblood prime (weight 8.8 to 70 kig., median 27.0 kg.; median pre-op Hct 45.0%) and 25/48 (52%) cases used 1 unit (weight 3.5 to 16.6 kg., median 9.0 kg.; median pre-op Hct 37.1 %). Through a conscious effort to conserve blood, we substantially reduced our banked blood requirements for congenital heart surgery. Blood conservation reduces cost, spares resources, and minimizes risk of transfusion reaction and infectious disease, but does not increase the morbidity of congenital heart surgery

    Potential for sexual conflict assessed via testosterone-mediated transcriptional changes in liver and muscle of a songbird

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    Males and females can be highly dimorphic in metabolism and physiology despite sharing nearly identical genomes, and both sexes respond phenotypically to elevated testosterone, a steroid hormone that alters gene expression. Only recently has it become possible to learn how a hormone such as testosterone affects global gene expression in non-model systems, and whether it affects the same genes in males and females. To investigate the transcriptional mechanisms by which testosterone exerts its metabolic and physiological effects on the periphery, we compared gene expression by sex and in response to experimentally elevated testosterone in a well-studied bird species, the dark-eyed junco (Junco hyemalis). We identified 291 genes in the liver and 658 in the pectoralis muscle that were differentially expressed between males and females. In addition, we identified 1727 genes that were differentially expressed between testosterone-treated and control individuals in at least one tissue and sex. Testosterone treatment altered the expression of only 128 genes in both males and females in the same tissue, and 847 genes were affected significantly differently by testosterone treatment in the two sexes. These substantial differences in transcriptional response to testosterone suggest that males and females may employ different pathways when responding to elevated testosterone, despite the fact that many phenotypic effects of experimentally elevated testosterone are similar in both sexes. In contrast, of the 121 genes that were affected by testosterone treatment in both sexes, 78% were regulated in the same direction (e.g. either higher or lower in testosterone-treated than control individuals) in both males and females. Thus, it appears that testosterone acts through both unique and shared transcriptional pathways in males and females, suggesting multiple mechanisms by which sexual conflict can be mediated
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