Finishing the euchromatic sequence of the human genome

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

Parents\u27 subjective sense of calling in childrearing

To possess a calling is to have a strongly held belief that one is destined to fulfil a specific life role, regardless of sacrifice, with an attitude that in so doing, his or her effort will make a meaningful contribution to the greater good. This dissertation investigates calling in childrearing, a previously unexplored domain of calling. In a series of four studies utilising qualitative and quantitative methods, the applicability and the function of calling in childrearing was explored. Study One utilised interpretative phenomenological analysis to investigate the relevance of calling in the parental domain, and explored the experience of this calling through qualitative semi-structured interviews with 11 mothers and fathers. Each parent’s definitions and experiences of calling were consistent with conception and experience of calling in previous research. Study Two reports on the development of a scale designed to measure parents’ subjective sense of calling in the childrearing role. Using exploratory and confirmatory factor analysis, two studies revealed a three-factor, eleven item scale that measured calling in childrearing. Parental subjective sense of calling in childrearing was positively associated with authoritative parenting style, importance of parenting, pleasure of parenting, parenting satisfaction, presence of meaning in life, satisfaction with life, savouring, and positive affect. The calling scale showed a negative relationship with age, income, and the sense that parenting is a burden. This study indicated that calling in childrearing is similar to calling in a career context, and appears related to optimal outcomes for those who possess it. Study Three extended that research by considering how parental sense of calling related to wellbeing in their teenage children. Thirty four early adolescents and their parents completed a suite of questionnaires. The wellbeing and engaged living of adolescents were positively related to parent’s calling, over and above any effects of parent’s satisfaction with life or parenting style. Study Four used a model of job crafting that has been shown to increase calling, in a pilot study, attempting to develop a sense of calling in 142 parents. Participants completed a suite of questionnaires, and carried out one activity each week for two weeks with their children. They then completed the questionnaires a second time. No significant main effects of time or group were obtained in the data, although a significant group by time interaction was obtained. Implications for calling development and future research were discussed. Calling appears to be a salient and useful construct in childrearing, demonstrates consistency in function across domains, and is related to optimal child wellbeing

Parents\u27 subjective sense of calling in childrearing: Measurement, development and initial findings

The construct of calling has received substantial recent attention in vocational research. This article reports on the development of a scale designed to measure parents’ subjective sense of calling in the childrearing role. Using exploratory, parallel, and confirmatory factor analysis, two studies revealed a three-factor, eleven item scale that measured calling in childrearing. Reliability findings are reported, as are convergent and discriminant validity. Parental subjective sense of calling in childrearing was positively associated with authoritative parenting style, importance of parenting, pleasure of parenting, parenting satisfaction, presence of meaning in life, satisfaction with life, savouring, and positive affect. The construct was negatively related to age, income, and the sense that parenting is a burden. Calling in childrearing is similar to calling in vocation, and appears related to optimal outcomes for those who possess it

\u3ci\u3eDrosophila\u3c/i\u3e Muller F Elements Maintain a Distinct Set of Genomic Properties Over 40 Million Years of Evolution

The Muller F element (4.2 Mb, ~80 protein-coding genes) is an unusual autosome of Drosophila melanogaster; it is mostly heterochromatic with a low recombination rate. To investigate how these properties impact the evolution of repeats and genes, we manually improved the sequence and annotated the genes on the D. erecta, D. mojavensis, and D. grimshawi F elements and euchromatic domains from the Muller D element. We find that F elements have greater transposon density (25–50%) than euchromatic reference regions (3–11%). Among the F elements, D. grimshawi has the lowest transposon density (particularly DINE-1: 2% vs. 11–27%). F element genes have larger coding spans, more coding exons, larger introns, and lower codon bias. Comparison of the Effective Number of Codons with the Codon Adaptation Index shows that, in contrast to the other species, codon bias in D. grimshawi F element genes can be attributed primarily to selection instead of mutational biases, suggesting that density and types of transposons affect the degree of local heterochromatin formation. F element genes have lower estimated DNA melting temperatures than D element genes, potentially facilitating transcription through heterochromatin. Most F element genes (~90%) have remained on that element, but the F element has smaller syntenic blocks than genome averages (3.4–3.6 vs. 8.4–8.8 genes per block), indicating greater rates of inversion despite lower rates of recombination. Overall, the F element has maintained characteristics that are distinct from other autosomes in the Drosophila lineage, illuminating the constraints imposed by a heterochromatic milieu