Matching Items (17)
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Description
Skeletal diseases related to reduced bone strength, like osteoporosis, vary in frequency and severity among human populations due in part to underlying genetic differentiation. With >600 disease-associated mutations (DAMs), COL1a1, which encodes the primary subunit of type I collagen, the main structural protein in bone, is most commonly associated with

Skeletal diseases related to reduced bone strength, like osteoporosis, vary in frequency and severity among human populations due in part to underlying genetic differentiation. With >600 disease-associated mutations (DAMs), COL1a1, which encodes the primary subunit of type I collagen, the main structural protein in bone, is most commonly associated with this phenotypic variation. Although numerous studies have explored genotype-phenotype relationships with COL1a1, surprisingly, no study has undertaken an evolutionary approach to determine how changes in constraint over time can be modeled to help predict bone-related disease factors. Here, molecular population and comparative species genetic analyses were conducted to characterize the evolutionary history of COL1a1. First, nucleotide and protein sequences of COL1a1 in 14 taxa representing ~450 million years of vertebrate evolution were used to investigate constraint across gene regions. Protein residues of historically high conservation are significantly correlated with disease severity today, providing a highly accurate model for disease prediction, yet interestingly, intron composition also exhibits high conservation suggesting strong historical purifying selection. Second, a human population genetic analysis of 192 COL1a1 nucleotide sequences representing 10 ethnically and geographically diverse samples was conducted. This random sample of the population shows surprisingly high numbers of amino acid polymorphisms (albeit rare in frequency), suggesting that not all protein variants today are highly deleterious. Further, an unusual haplotype structure was identified across populations, but which is only associated with noncoding variation in the 5' region of COL1a1 where gene expression alteration is most likely. Finally, a population genetic analysis of 40 chimpanzee COL1a1 sequences shows no amino acid polymorphism, yet does reveal an unusual haplotype structure with significantly extended linkage disequilibrium >30 kilobases away, as well as a surprisingly common exon duplication that is generally highly deleterious in humans. Altogether, these analyses indicate a history of temporally and spatially varying purifying selection on not only coding, but noncoding COL1a1 regions that is also reflected in population differentiation. In contrast to clinical studies, this approach reveals potentially functional variation, which in future analyses could explain the observed bone strength variation not only seen within humans, but other closely related primates.
ContributorsStover, Daryn Amanda (Author) / Verrelli, Brian C (Thesis advisor) / Dowling, Thomas E (Committee member) / Rosenberg, Michael S. (Committee member) / Stone, Anne C (Committee member) / Schwartz, Gary T (Committee member) / Arizona State University (Publisher)
Created2010
Description
Studying human genetic variation opens the possibility of understanding the details of population migrations, how humans develop and function, and why they get sick. To fully understand these things, genetic variation must be comprehensively characterized across globally diverse human populations and evolutionary knowledge can be used to inform studies of

Studying human genetic variation opens the possibility of understanding the details of population migrations, how humans develop and function, and why they get sick. To fully understand these things, genetic variation must be comprehensively characterized across globally diverse human populations and evolutionary knowledge can be used to inform studies of disease. In my dissertation I use computational methods to study human genetic variation. Each of my dissertation chapters focuses on a unique topic in the field of human evolutionary genetics. In the first chapter, I present PopInf, a computational pipeline to visualize principal components analysis output and assign ancestry to samples with unknown genetic ancestry, given a reference population panel of known origins. This pipeline facilitates visualization and identification of genetic ancestry across samples, so that this ancestry can be accounted for in studies of health and disease risk. In the next chapter, I investigate factors that shape patterns of genetic variation within and among four small-scale pastoral populations in northern Kenya. I find that geography predominantly shapes patterns of genetic variation in northern Kenyan human populations. In the next chapter, I investigate the extent to which Neanderthal introgression impacts liver cancer etiology. I find a pattern of overall enrichment of somatic mutations on Neanderthal introgressed haplotypes. Finally, through simulations, I investigate the effects of standard autosomal versus sex chromosome complement-informed alignment, variant calling and variant filtering strategies on variants called on the human sex chromosomes. I show that aligning to a reference genome informed on the sex chromosome complement of samples improves variant calling on the sex chromosome compared to aligning to a default reference, and variant calling is improved in males when calling the sex chromosomes haploid rather than diploid and when using haploid-based thresholds for filtering variants on the sex chromosomes. I provide recommendations for alignment, variant calling and filtering on the sex chromosomes based on these findings.
ContributorsOill, Angela Maria (Author) / Wilson, Melissa A (Thesis advisor) / Stone, Anne C (Thesis advisor) / Buetow, Kenneth H (Committee member) / Mathew, Sarah (Committee member) / Pfeifer, Susanne P (Committee member) / Arizona State University (Publisher)
Created2022
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Description

‘Describing at Large Their True and Lively Figure, their several Names, Conditions, Kinds, Virtues (both Natural and Fanciful), Countries of their Species, their Love and Hatred to Humankind, and the wonderful work of Natural Selection in their Evolution, Preservation, and Destruction.

Interwoven with curious variety of Creative Narrations out of Academic

‘Describing at Large Their True and Lively Figure, their several Names, Conditions, Kinds, Virtues (both Natural and Fanciful), Countries of their Species, their Love and Hatred to Humankind, and the wonderful work of Natural Selection in their Evolution, Preservation, and Destruction.

Interwoven with curious variety of Creative Narrations out of Academic Literatures, Scholars, Artists, Scientists, and Poets. Illustrated with diverse Graphics and Emblems both pleasant and profitable for Students of all Faculties and Professions.’

ContributorsHinde, Katie (Author) / Amorim, Carlos Eduardo G (Author) / Anderson, Chris (Author) / Beasley, Melanie (Author) / Brokaw, Alyson F (Author) / Brubaker-Wittman, Laura (Author) / Brunstrum, Jeff (Author) / Burt, Nicole M (Author) / Casillas, Mary C (Author) / Chen, Albert (Author) / Chestnut, Tara (Author) / Coffman, Robin (Author) / Connors, Patrice K. (Author) / Dasari, Mauna (Author) / Dietrick, Jeanne (Author) / Ditelberg, Connor Fox (Author) / Drew, Josh (Author) / Durgavich, Lara (Author) / Easterling, Brian (Author) / Faust, Kaitlyn (Author) / Gabrys, Jennifer (Author) / Haridy, Yara (Author) / Hecht, Ian (Author) / Henning, Charon (Author) / Hilborn, Anne W. (Author) / Janz, Margaret (Author) / Josefson, Chloe (Author) / Karlsson, Elinor K (Author) / Kauffman, Laurie (Author) / Kissel, Jenna (Author) / Kissel, Marc (Author) / Kobylecky, Jennifer (Author) / Krell, Jason (Author) / Lee, Danielle N. (Author) / Lesciotto, Kate M (Author) / Lewton, Kristi L (Author) / Light, Jessica (Author) / Martin, Jessica Leigh, 1991- (Author) / Moore, Rick (Author) / Murphy, Asia (Author) / Murphy, Kaitlyn (Author) / Nickley, William (Author) / Nuñez-de la Mora, Alejandra (Author) / Pellicer, Olivia (Author) / Pellicer, Valeria (Author) / Perry, Anali Maughan (Author) / Popescu, Jessica (Author) / Rocha, Emily (Author) / Rubio-Godoy, Miguel (Author) / Rudzis, Cyn (Author) / Sarma, Mallika (Author) / Schuttler, Stephanie (Author) / Sinnott, Madeline (Author) / Stone, Anne C. (Author) / Tanis, Brian   (Author) / Thacher, Abbie (Author) / Upham, Nathan (Author) / Varner, Jo (Author) / Villanea, Fernando (Author) / Weber, Jesse (Author) / Wilson, Melissa A. (Author) / Willcocks, Emma (Author)
Created2023-11-06
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Description

‘Describing at Large Their True and Lively Figure, their several Names, Conditions, Kinds, Virtues (both Natural and Fanciful), Countries of their Species, their Love and Hatred to Humankind, and the wonderful work of Natural Selection in their Evolution, Preservation, and Destruction.

Interwoven with curious variety of Creative Narrations out of Academic

‘Describing at Large Their True and Lively Figure, their several Names, Conditions, Kinds, Virtues (both Natural and Fanciful), Countries of their Species, their Love and Hatred to Humankind, and the wonderful work of Natural Selection in their Evolution, Preservation, and Destruction.

Interwoven with curious variety of Creative Narrations out of Academic Literatures, Scholars, Artists, Scientists, and Poets. Illustrated with diverse Graphics and Emblems both pleasant and profitable for Students of all Faculties and Professions.’

ContributorsHinde, Katie (Author) / Amorim, Carlos Eduardo G (Author) / Anderson, Chris (Author) / Beasley, Melanie (Author) / Brokaw, Alyson F (Author) / Brubaker-Wittman, Laura (Author) / Brunstrum, Jeff (Author) / Burt, Nicole M (Author) / Casillas, Mary C (Author) / Chen, Albert (Author) / Chestnut, Tara (Author) / Coffman, Robin (Author) / Connors, Patrice K. (Author) / Dasari, Mauna (Author) / Dietrick, Jeanne (Author) / Ditelberg, Connor Fox (Author) / Drew, Josh (Author) / Durgavich, Lara (Author) / Easterling, Brian (Author) / Faust, Kaitlyn (Author) / Gabrys, Jennifer (Author) / Haridy, Yara (Author) / Hecht, Ian (Author) / Henning, Charon (Author) / Hilborn, Anne W. (Author) / Janz, Margaret (Author) / Karlsson, Elinor K (Author) / Kissel, Jenna (Author) / Kissel, Marc (Author) / Kobylecky, Jennifer (Author) / Krell, Jason (Author) / Lee, Danielle N. (Author) / Lesciotto, Kate M (Author) / Lewton, Kristi L (Author) / Light, Jessica (Author) / Martin, Jessica Leigh, 1991- (Author) / Moore, Rick (Author) / Murphy, Asia (Author) / Nickley, William (Author) / Nuñez-de la Mora, Alejandra (Author) / Pellicer, Olivia (Author) / Pellicer, Valeria (Author) / Perry, Anali Maughan (Author) / Rudzis, Cyn (Author) / Schuttler, Stephanie (Author) / Sinnott, Madeline (Author) / Stone, Anne C (Author) / Tanis, Brian   (Author) / Upham, Nathan (Author) / Villanea, Fernando (Author) / Weber, Jesse (Author) / Wilson, Melissa A. (Author) / Willcocks, Emma (Author)
Created2023-02-01
Description

This item includes:

1) The official bracket files for the 2022 MMM tournament

2) A screen-reader enabled bracket file

3) 2022 March Mammal Madness Educational Materials Packet – in English

4) 2022 March Mammal Madness Educational Materials Packet – in Spanish

5) March Mammal Madness, Middle School Lesson Plan : Ecosystems & National Parks

6) March Mammal

This item includes:

1) The official bracket files for the 2022 MMM tournament

2) A screen-reader enabled bracket file

3) 2022 March Mammal Madness Educational Materials Packet – in English

4) 2022 March Mammal Madness Educational Materials Packet – in Spanish

5) March Mammal Madness, Middle School Lesson Plan : Ecosystems & National Parks

6) March Mammal Madness, High School Lesson Plan : Ecosystems & National Parks 

ContributorsHinde, Katie (Author) / Nickley, William (Author) / Light, Jessica (Author) / Nuñez-de la Mora, Alejandra (Author) / Kissel, Jenna (Author) / Hecht, Ian (Author) / Gabrys, Jennifer (Author) / Brunstrum, Jeff (Author) / Schuttler, Stephanie (Author) / Chestnut, Tara (Author) / Mahmoud, Marwa (Author)
Created2022
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Description

Since 2018, MMM team members have written sport-style summaries following the live "play-by-play" narration of simulated combatant encounters on social media. These summaries, highlighting key adaptations, human impacts, and other scholarly information, have been provided to educators to describe tournament outcomes to their learners who do not follow the battle

Since 2018, MMM team members have written sport-style summaries following the live "play-by-play" narration of simulated combatant encounters on social media. These summaries, highlighting key adaptations, human impacts, and other scholarly information, have been provided to educators to describe tournament outcomes to their learners who do not follow the battle narrations "live" on social media.

ContributorsLesciotto, Kate M (Author) / Martin, Jessica Leigh, 1991- (Author) / Krell, Jason (Author) / Hinde, Katie (Author, Researcher) / Anderson, Chris (Researcher) / Brokaw, Alyson F (Researcher) / Chestnut, Tara (Researcher) / Connors, Patrice K. (Researcher) / Dasari, Mauna (Researcher) / Drew, Josh (Researcher) / Durgavich, Lara (Researcher) / Hilborn, Anne W. (Researcher) / Kissel, Marc (Researcher) / Lee, Danielle N. (Researcher) / Lewton, Kristi L (Researcher) / Light, Jessica (Researcher) / Murphy, Asia (Researcher) / Tanis, Brian   (Researcher) / Varner, Jo (Researcher) / Wrenford, Kwasi (Researcher)
Created2022
Education and Outreach: March Mammal Madness and the power of narrative in science outreach
Description

March Mammal Madness is a science outreach project that, over the course of several weeks in March, reaches hundreds of thousands of people in the United States every year. We combine four approaches to science outreach – gamification, social media platforms, community event(s), and creative products – to run a

March Mammal Madness is a science outreach project that, over the course of several weeks in March, reaches hundreds of thousands of people in the United States every year. We combine four approaches to science outreach – gamification, social media platforms, community event(s), and creative products – to run a simulated tournament in which 64 animals compete to become the tournament champion. While the encounters between the animals are hypothetical, the outcomes rely on empirical evidence from the scientific literature. Players select their favored combatants beforehand, and during the tournament scientists translate the academic literature into gripping “play-by-play” narration on social media. To date ~1100 scholarly works, covering almost 400 taxa, have been transformed into science stories. March Mammal Madness is most typically used by high-school educators teaching life sciences, and we estimate that our materials reached ~1% of high-school students in the United States in 2019. Here we document the intentional design, public engagement, and magnitude of reach of the project. We further explain how human psychological and cognitive adaptations for shared experiences, social learning, narrative, and imagery contribute to the widespread use of March Mammal Madness.

ContributorsHinde, Katie (Author) / Amorim, Carlos Eduardo G (Author) / Brokaw, Alyson F (Author) / Burt, Nicole M (Author) / Casillas, Mary C (Author) / Chen, Albert (Author) / Chestnut, Tara (Author) / Connors, Patrice K. (Author) / Dasari, Mauna (Author) / Ditelberg, Connor Fox (Author) / Dietrick, Jeanne (Author) / Drew, Josh (Author) / Durgavich, Lara (Author) / Easterling, Brian (Author) / Henning, Charon (Author) / Hilborn, Anne W. (Author) / Karlsson, Elinor K (Author) / Kissel, Marc (Author) / Kobylecky, Jennifer (Author) / Krell, Jason (Author) / Lee, Danielle N. (Author) / Lesciotto, Kate M (Author) / Lewton, Kristi L (Author) / Light, Jessica (Author) / Martin, Jessica Leigh, 1991- (Author) / Murphy, Asia (Author) / Nickley, William (Author) / Nuñez-de la Mora, Alejandra (Author) / Pellicer, Olivia (Author) / Pellicer, Valeria (Author) / Perry, Anali Maughan (Author) / Schuttler, Stephanie (Author) / Stone, Anne C (Author) / Tanis, Brian   (Author) / Weber, Jesse (Author) / Wilson, Melissa A. (Author) / Willcocks, Emma (Author) / Anderson, Chris (Author)
Created2021-02-22
2021 March Mammal Madness Educational Materials
Description

This packet includes:

 2021 Bracket Common Name 

2021 Bracket Latin Binomial 

Bracket FAQ (English) 

Pre-Tournament Research Lesson Plan (English) 

Tournament Lesson Plan & Worksheets (English) 

Visual Arts Lesson Plan (English) 

Language Arts Lesson Plan (English) 

Guide for Youngest Players (English)

JUMBO Bracket for Youngest Players (English)

2021 Bracket Common Name (Spanish) 

Pre-Tournament Research Lesson Plan (Spanish) 

Tournament Lesson Plan & Worksheets (Spanish) 

Visual

This packet includes:

 2021 Bracket Common Name 

2021 Bracket Latin Binomial 

Bracket FAQ (English) 

Pre-Tournament Research Lesson Plan (English) 

Tournament Lesson Plan & Worksheets (English) 

Visual Arts Lesson Plan (English) 

Language Arts Lesson Plan (English) 

Guide for Youngest Players (English)

JUMBO Bracket for Youngest Players (English)

2021 Bracket Common Name (Spanish) 

Pre-Tournament Research Lesson Plan (Spanish) 

Tournament Lesson Plan & Worksheets (Spanish) 

Visual Arts Lesson Plan (Spanish)

Language Arts Lesson Plan (Spanish) 

JUMBO Bracket for Youngest Players (Spanish) 

ContributorsHinde, Katie (Author) / Schuttler, Stephanie (Author) / Henning, Charon (Illustrator) / Nuñez-de la Mora, Alejandra (Translator) / Kissel, Jenna (Author) / Nickley, William (Artist)
Created2021-02
ContributorsStrock, Adam (Performer) / Anderson, Chris (Performer) / Epping, Mike (Performer) / Shiner, Matt (Performer) / Dawson, John (Performer) / Boyajian, Harout (Performer) / Powell, Daniel (Performer) / Cunningham, Jeff (Performer) / Yarbo, Steve (Performer) / Gorman, Kevin (Performer) / ASU Library. Music Library (Publisher)
Created2002-12-04
Open Educational Resources from 2020 March Mammal Madness Tournament
Description

This packet includes:

2020 Bracket Common Name

2020 Bracket Latin Binomial

Pre-Tournament Research Lesson Plan (English)

Tournament Lesson Plan & Worksheets (English)

Visual Arts Lesson Plan (English)

Language Arts Lesson Plan (English)

2020 Bracket Common Name (Spanish)

Pre-Tournament Research Lesson Plan (Spanish)

Tournament Lesson Plan & Worksheets (Spanish)

ContributorsHinde, Katie (Author) / Schuttler, Stephanie (Author) / Henning, Charon (Illustrator) / Nuñez-de la Mora, Alejandra (Translator)
Created2020