Online resource for parents of children with congenital hand differences

Children with congenital hand differences (CHD) are at risk for social isolation, increased anxiety, and lower rates of self-esteem when compared to their typically developing peers (Lumsdaine et al, 2016). Parents may feel guilt, isolation, and may have perceived lack of resources to best support their children (Ardon, Janssen, Hovius, Stam, & Selles, 2012; Murray, Kelley-Soderholm, & Murray, 2007). Goffman (1963) explained that society perceives that individuals with differences belong to the “other” category deprived of social privileges which are standard to those in the “in-group”. Many children with congenital hand differences and their parents have limited access to the resources to manage and cope effectively with the negative assumptions about their ability.. This doctoral capstone project describes the development of an online resource for parents of children with congenital hand differences. The content for the webpage is based on literature, clinical and personal experiences. The online resource was designed to increase feelings of support, community, and effective coping for parents of children with CHD. Fourteen parents were recruited via social media platforms to review and evaluate the website. Responded evaluated the ease in website navigation, the usefulness of content, and rated their likelihood to use and to recommend the website. Parents on average found the website easy to navigate, useful, and were likely to use, and recommend the website

Drosophila 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 higher 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% versus 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 versus 8.4-8.8 genes per block), indicating higher rates of inversion despite lower rates of recombination. Overall, the F element has maintained characteristics that are distinct from other autosomes in the Drosophilalineage, illuminating the constraints imposed by a heterochromatic milieu

\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