John Starbuck and Joan Richtsmeier recently published a paper in the American Journal of Physical Anthropology. This paper is based on chapter 2 of John's dissertation research.

Am J Phys Anthropol. 2013 Mar 15. doi: 10.1002/ajpa.22255. [Epub ahead of print]

Trisomy 21 and Facial Developmental Instability

John M. Starbuck,^1* Theodore M. Cole III,² Roger H. Reeves,³ and Joan T. Richtsmeier^1,4

¹Department of Anthropology, The Pennsylvania State University, University Park, PA 16802

²Department of Basic Medical Science, School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64108

³Department of Physiology and Institute for Genetic Medicine, Johns Hopkins University School of Medicine Baltimore, MD 21205

⁴Center for Functional Anatomy and Evolution, The Johns Hopkins University School of Medicine, Baltimore, MD 21205

*Department of Orthodontics and Facial Genetics, School of Dentistry, Indiana University, Indianapolis, IN 46202

ABSTRACT

The most common live-born human aneuploidy is trisomy 21, which causes Down syndrome (DS). Dosage imbalance of genes on chromosome 21 (Hsa21) affects complex gene-regulatory interactions and alters development to produce a wide range of phenotypes, including characteristic facial dysmorphology. Little is known about how trisomy 21 alters craniofacial morphogenesis to create this characteristic appearance. Proponents of the "amplified developmental instability" hypothesis argue that trisomy 21 causes a generalized genetic imbalance that disrupts evolutionarily conserved developmental pathways by decreasing developmental homeostasis and precision throughout development. Based on this model, we test the hypothesis that DS faces exhibit increased developmental instability relative to euploid individuals. Developmental instability was assessed by a statistical analysis of fluctuating asymmetry. We compared the magnitude and patterns of fluctuating asymmetry among siblings using three-dimensional coordinate locations of 20 anatomic landmarks collected from facial surface reconstructions in four age-matched samples ranging from 4 to 12 years: 1) DS individuals (n=55); 2) biological siblings of DS individuals (n=55); 3) and 4) two samples of typically developing individuals (n=55 for each sample), who are euploid siblings and age-matched to the DS individuals and their euploid siblings (samples 1 and 2). Identification in the DS sample of facial prominences exhibiting increased fluctuating asymmetry during facial morphogenesis provides evidence for increased developmental instability in DS faces. We found the highest developmental instability in facial structures derived from the mandibular prominence and lowest in facial regions derived from the frontal prominence.

Integrated Undergraduate-Graduate student Jason Bundy was one of a handful of applicants selected from a large pool of undergraduates and recent graduates to participate in the Undergraduate Diversity at Evolution 2013 program. Jason will present on his master's research, "Total sexual selection on men's voices". Evolution 2013 is the annual joint meeting of the Society for the Study of Evolution, the Society of Systematic Biologists, and the American Society of Naturalists, and will take place in Snowbird, Utah from June 21st through 25th. The Undergraduate Diversity at Evolution 2013 program covers all expenses (travel, food, lodging, conference registration). Students participating in this program present a poster of their research, attend scientific sessions, receive mentoring from graduate students, postdocs and faculty members, and participate in career/professional development workshops.

Anne Buchanan and Ken Weiss recently had an essay up at Aeon Magazine today, a new digital magazine of "ideas and culture".   The essay is titled "Things genes can't do."  The Aeon magazine publish one longform essay every week day, on a wide range of subjects.  The magazine is free, no subscription required.

You can access Anne and Ken's essay at:  http://www.aeonmagazine.com/nature-and-cosmos/kenneth-weiss-anne-buchanan-genetics/

Dr. Richtsmeier and graduate student Kevin Flaherty publish an article on the interaction of brain and skull in development and disease. The brain originates relatively early in development from differentiated ectoderm that forms a hollow tube and takes on an exceedingly complex shape with development. The skull is made up of individual bony elements that form from neural crest- and mesoderm-derived mesenchyme that unite to provide support and protection for soft tissues and spaces of the head. Because cells of early brain and skull are sensitive to similar signaling families, variation in the strength or timing of signals or shifts in patterning boundaries that affect one system (neural or skull) could also affect the other system and appropriate co-adjustments in development would be made.

http://link.springer.com/journal/401/125/4/page/1
Read more: http://www.mdlinx.com/pathology/news-article.cfm/4531889/dysmorphogenesis-brain#ixzz2PEuGN3Fn

Katie Rhodes, an undergraduate student working in the Richtsmeier lab has just been awarded a 2013 Undergraduate Summer Discovery Grant through the College of the Liberal Arts in support of her project Seeing Genes in Action: Creating an Online Resource for Visualizing Craniofacial Dysmorphology. A total of fifty-eight grants are being awarded this year through the Office of Undergraduate Education and additional funding from colleges. One hundred-twenty applications were received and the selection process was competitive.  Katie will be working with members of the Richtsmeier and Weiss laboratories to put together a website that documents the phenotypic changes in mouse models for human diseases produced for analysis.The objective of this project is to create an interactive online tool for the purpose of visualizing the morphological and developmental effects of several mutations known to alter the formation of tissues in the head.

Tim Ryan recently had a paper published in Proceedings B. The paper, coauthored with former PSU postdoctoral scholar Colin Shaw, describes the relationships between trabecular bone architecture and body size in a diverse sample of primates. The analysis reveals complex scaling patterns of various bone structural features within primates and provides insight into the mechanical factors and physiological constraints on bone microstructure. The results have potentially important implications for understanding age-related bone loss in humans. The article can be accessed at: http://rspb.royalsocietypublishing.org/content/280/1758/20130172.short?rss=1

Betty Blair, who has worked in the department for over four years as an Administrative Support Assistant, was recently awarded the College of the Liberal Arts 2013 Exceptional Service Award for her many contributions to the department and college's welfare.  Her responsibilities include, among others, providing support for the department head, graduate program and serving as the facilities coordinator.

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Fourth Annual Penn State Anthropology Film Festival (Thurs. Mar 14^th, 21^st, and 28^th)

Carnegie Cinema (112 Chambers) - Mar. 14^th and 21^st

201 Thomas - Mar. 28^th

This year's Anthropology Film Festival theme is "Exploring Sex and Gender". This festival will present three ethnographic films and discussion with experts over three weeks.  Our first film (Spitting Game: The College Hook Up Culture) is by Denice Ann Evans, provides insights from university students, experts, and parents who speak openly about alcohol, drugs, sexual assault, and the state of relationships on college campuses. The second film (The Virgin Daughters) explores the controversial purity movement currently sweeping the United States, focusing on young girls who take a pledge to their parents to remain a virgin until their wedding day. Our third film (Two Spirits), by Lydia Nibley, focuses on the concept of a the third gender in Navajo culture recognized and revered as nádleehí, or "two-spirit" people. Although the three films focus more on different sectors of society and their perspective on society, they provide a holistic view of the topic of sexuality in America today.

SCHEDULE

·         Mar 14^th - Spitting Game (produced by Denice Ann Evans) - 57 min

We have invited Denice Ann Evans, writer/director of a compelling documentary entitled, Spitting Game: The College Hook Up Culture, to introduce and discuss her film on March 14^th. Her documentary has been showcased at festivals throughout the U.S. and recently won Best Social Awareness Documentary at the 2009 Delray Beach Film Festival. She has been a guest expert, speaking about college life, and a featured panelist for Campus Outreach Programs. Ms. Evans is a highly requested speaker on college, university, and high schools campuses where she uses an educational version of her film to help raise awareness on the risks, reasons, and realities within the university culture.

·         Mar 21^st - The Virgin Daughters (directed by Jane Treays) - 48 min

Guest speaker TBD

·         Mar 28^th - Two Spirits (produced by Lydia Nibley and Russell Martin) - 58 min

Guest speaker TBD