Human Craniofacial Genetics

It is well-documented that craniofacial anomalies are among the most common congenital defects.  Research on the genetic basis for these anomalies has successfully identified several of the major genes involved in craniofacial development.  One cannot help but be impressed by the wealth of detailed genetic information that is rapidly becoming available for human dental and cranial disorders. It is also clear, however, that advances in the genetics of craniofacial disorders have not provided unambiguous answers to important questions regarding the genetic architecture of normal and abnormal craniofacial variation. My current work seeks to elucidate the genetic underpinnings of anatomical variation of the human and non-human craniofacial complex.

Dental casting, Jiri, Nepal Dental casting, Jiri, Nepal

Two current projects are investigating the genetic architecture of craniofacial variation in humans.  Both projects take simple measures describing the morphology in the area of interest.  These measures are subjected to quantitative genetic analyses that allow us to identify 1) the relative influence genes have on a trait; 2) the proportion of which two traits are controlled by the same gene or sets of genes; and 3) to begin to localize the chromosomal regions harboring genes influencing variation.  

The first project examines traits identified on lateral cephalographs of participants in the Fels Longitudinal Study.  The Fels Longitudinal Study is the worlds largest, and longest running study of human growth, development, and body composition.   Measurements describing the basicranium, face, and neurocranium are taken from the lateral cephalographs available in the study archives.   The second project examines, in detail, the morphology of the dentition and the jaws in a human population from the small village of Jiri, Nepal.  This population has limited access to orthodontic procedures and, thus, provides a unique opportunity to study the morphological integration of this region. 

Funding

References

Recent publications

Sherwood, R.J., K.P. McNulty, D.L. Duren, Quantitative genetic analysis of morphometric data: challenges and consideration. (Invited paper for symposium: Modern Morphometrics in Physical Anthropology II, dedicated to the memory of Dr. Robert R. Sokal. For presentation at the annual meetings of the American Association of Physical Anthropologists. April 9-13, 2013, Knoxville, TN).

Sherwood, R.J., D.L. Duren. (2013).  The genetics of morphology.  In Companion to Paleoanthropology (D. Begun, ed.). Wiley-Blackwell Publishing. Malden, MA. Pp. 306-320 (to be released Feb. 2013).

Duren, D.L., M. Šešelj, A.W. Froehle, R.W. Nahhas, R.J. Sherwood. (2013) Skeletal growth and the changing genetic landscape during childhood and adulthood. Am.J.Phys.Anthropol. DOI 10.1002/ajpa.22183.

Nahhas, R.W., R.J. Sherwood, Wm.C. Chumlea, B. Towne, D.L. Duren. (2013) Skeletal age conditional reference values and predicting the timing of maturational spurts. Am.J. Phys. Anthropol.

Sherwood, R.J., D.L. Duren  Variation, genetics, and evolution of the primate craniofacial complex. (in press) In Genome Mapping and Genomics in Human and Non-Human Primates. (R. Duggirala, A.G. Comuzzie, S. Williams-Blangero, C. Kole, eds.) Springer.

Sherwood, R.J., and D.L. Duren. (2013) Growth of a Species, an Association, a Science: 80 Years of Growth and Development Research.  Am.J. Phys. Anthropol. DOI 10.1002/ajpa.22178.

Sherwood RJ, Duren DL, Mahaney MC, Blangero J, Dyer TD, Cole SA, Czerwinski SA, Chumlea WmC, Siervogel RM, Choh AC, Nahhas RW, Lee M, Towne B. (2011) A genome-wide linkage scan for quantitative trait loci influencing the craniofacial complex in humans (Homo sapiens sapiens).  Anat. Rec. 294:664-675.

 

Previous publications

Antón SC, Snodgrass JJ, Crowder C, Di Fiore A, Duren DL, Fernandez-Duque E, Leonard WR, Leigh SR, Madimenos FC, McGraw WS, Middleton E, Schmitt C, Sherwood RJ, Stinson S, Stubblefield P, Turner T, Valeggia CR, and White FJ. 2009. Integrative measurement protocol for morphological and behavioral research in human biology. Am J Phys Anthropol. 138(Suppl.48):109.

Chumlea WC, Choh AC, Lee M, Towne B, Sherwood RJ, Duren DL, Czerwinski SA, Sun SS, and Siervogel RM. 2009. The First seriatim study into old age for weight, stature and BMI: The Fels Longitudinal Study. J Nutr H Ag. 13:3-5.

Czerwinski SA, Lee M, Choh AC, Demerath EW, Towne B, Sherwood RJ, Duren DL, Blangero J, Cole SA, and Siervogel RM. 2007. Genome-wide scan for QTL influencing bone mineral density: The Southwest Ohio Family Study. J Bone Miner Res 22S1.

Demerath EW, Choh AC, Czerwinski SA, Lee M, Sun SS, Chumlea WC, Duren D, Sherwood RJ, Blangero J, Towne B, and Siervogel RM. 2007. Genetic and environmental influences on infant weight and weight change: the Fels Longitudinal Study. Am J Hum Biol 19:692-702.

Demerath EW, Choh AC, Lee M, Czerwinski SA, Sherwood RJ, Duren DL, Sun SS, Chumlea WC, Siervogel RM, and Towne B. 2006. Accelerated growth during infancy and visceral adiposity in adulthood: The Fels Longitudinal Study. Obesity Supp. 14:A35.

Duren DL, Blangero J, Sherwood RJ, Curran JE, Dyer T, Cole SA, Czerwinski SA, Chumlea WC, Lee M, Choh AC, Demerath EW, Siervogel RM, and Towne B. 2008. Childhood cortical bone and skeletal age show bivariate genetic linkage to chromosome 2p. JBMR 23:S50.

Duren DL, Blangero J, Sherwood RJ, Dyer T, Cole SA, Czerwinski SA, Chumlea WC, Sun SS, Demerath EW, Siervogel RM, and Towne B. 2007. Childhood bone strength shows genetic linkage to chromosomes 2, 4 and 12: results from the Fels Longitudinal Study. Bone 40:S42-S43.

Duren DL, Czerwinski SA, Sherwood RJ, Roche AF, Siervogel RM, and Towne B. 2003. Quantitative genetics of the craniofacial complex in modern humans. Am J Phys Anthropol Suppl. 36:91-92.

Duren DL, Sherwood RJ, Blangero J, Subedi J, Dyer T, Jha B, VandeBerg JL, Towne B, and Williams-Blangero S. 2008. Genetic linkage of measures of hand joint structure and osteoarthritis to chromosomes 7p and 14q. Am J Hum Genet. Abstract # 1636/T. Available from http://www.ashg.org/2008meeting/pdf/abstractbook1.pdf

Duren DL, Sherwood RJ, Choh AC, Czerwinski SA, Chumlea WC, Lee M, Sun SS, Demerath EW, Siervogel RM, and Towne B. 2007. Quantitative genetics of cortical bone mass in healthy 10-year-old children from the Fels Longitudinal Study. Bone 40:464-470.

Duren DL, Sherwood RJ, Chumlea WC, Siervogel RM, and Towne B. 2006. Radiographic joint space of the knee in healthy young adults. Hum Biol 78:353-364. 

Duren DL, Sherwood RJ, Czerwinski SA, Chumlea WC, Demerath EW, Sun SS, Siervogel RM, and Towne B. 2008. Genetic architecture of knee radiographic joint space in healthy young adults. Hum Biol 80:1-9. 

Duren DL, Sherwood RJ, Czerwinski SA, Lee M, Choh AC, Siervogel RM, and Chumlea WmC. 2008. Body composition methods: comparisons and interpretation. J Diabet Sci Tech. 2:1139-1146.

Duren DL, Sherwood RJ, Lee M, Siervogel RM, and Towne B. In press. Human bipedality and the genetic architecture of a locomotor system. Am J Phys Anthropol. 138(Suppl.48):180-181.

Duren DL, Williams-Blangero S, Subedi J, Shrestha R, Jha B, Towne B, and Sherwood RJ. 2006. Genetic architecture of the human dentognathic complex. Available from www.craniofacialgenetics.org.

Iossi M, Konstantakos E, Teel D, Sherwood RJ, Laughlin R, and Duren DL. 2009. Musculoskeletal function following bariatric surgery. Podium No: 081. Available from http://www3.aaos.org/education/anmeet/anmt2009/podium/podium.cfm?Pevent=081.

Iossi M, Konstantakos E, Teel D, Sherwood RJ, Laughlin R, and Duren DL. In press. Improvement in musculoskeletal function following bariatric surgery.

Lee M, Choh AC, Demerath EW, Towne B, Sherwood RJ, Duren DL, Blangero J, Siervogel RM, Cole SA, and Czerwinski SA. 2007. Evidence for QTL underlying normal variation in calcaneal quantitative ultrasound measures: The Southwest Ohio Family Study. J Bone Miner Res 22S1.

Lee M, Czerwinski SA, Liang R, Choh AC, Sun SS, Duren DL, Sherwood RJ, Demerath EW, Chumlea WC, Towne B, and Siervogel RM. 2008. Sex-specific relationship between apolipoprotein B/Apolipoprotein AI and Metabolic Syndrome. Available from scientificsessions.diabetes.org.

Lee M, Nahhas RW, Choh AC, Demerath EW, Chumlea WC, Duren DL, Sherwood RJ, Williams KD, Towne B, Siervogel RM, and Czerwinski SA. 2008. Longitudinal analysis of calcaneal quantitative ultrasound measures during childhood. JBMR 23:S454.

Nahhas RW, Choh AC, Lee M, Chumlea WmC, Sherwood RJ, Duren DL, Towne B, Siervogel RM, and Czerwinski SA. 2009. Longitudinal analysis of grip strength over the lifespan. Hum. Biol. 138(Suppl.48):303.

Sherwood, RJ, Duren, DL. (2008) Genetics of the Craniofacial Complex.  In Essentials of Facial Growth, Second Edition. (D. Enlow, M. Hans, eds.).  Ann Arbor: Needham Press, Inc.  Pp. 402-412.

Sherwood RJ, Duren DL, Havill LM, Rogers J, Cox LA, Towne B, Mahaney MC. (2008) A genome-wide linkage scan for quantitative trait loci influencing the craniofacial complex in baboons (Papio hamadryas spp).  Genetics 180:619-628.

Sherwood RJ, Duren DL, Demerath EW, Czerwinski SA, Siervogel RM, Towne B.  (2008) Quantitative genetics of modern human cranial variation.  J.Hum.Evol., 54:909-914.

Sherwood RJ, and Duren DL. 2008. Genetics of the Craniofacial Complex. In: Enlow DH, Hans MG, editors. Essentials of Facial Growth. Ann Arbor: Needham Press, Inc. p. p 402-412.

Sherwood RJ, and Duren DL. 2009. The genetics of morphology. Am J Phys Anthropol. 138(Suppl.48):369.

Sherwood RJ, Duren DL, Blangero J, Czerwinski SA, and Towne B. 2004. Genetic architecture of the human craniofacial complex with paleontological implications. J Morphol 260:328.

Sherwood RJ, Duren DL, Blangero J, Dyer T, Cole SA, Siervogel RM, and Towne B. 2004. A genome wide-linkage scan for quantitative trait loci influencing the craniofacial complex. Available from: www.ashg.org/cgi-bin/ashg04s/ashg04.

Sherwood RJ, Duren DL, Blangero J, Dyer T, Cole SA, Siervogel RM, and Towne B. 2005. Craniofacial genetics and the Fels Longitudinal Study. Available from: www.craniofacialgenetics.org/.

Sherwood RJ, Duren DL, Blangero J, Dyer T, Cole SA, Siervogel RM, and Towne B. 2005. The Search for the Real Missing Link: Finding the Genes that Influence Craniofacial Morphology. Paleoanthropol PAS 2005 Abstracts:A40.

Sherwood RJ, Duren DL, Blangero J, Mahaney MC, and Towne B. 2006. Face value: Comparative quantitative genetics of the human (Homo sapiens) and baboon (Papio hamadryas) craniofacial complex. Paleoanthropol PAS 2006 Abstracts:A01.

Sherwood RJ, Duren DL, Blangero J, Subedi J, Shrestha R, Jha B, Towne B, and Williams-Blangero S. 2007. Genetic influence and integration of dental traits. Paleoanthropol 2007:A28.

Sherwood RJ, Duren DL, Blangero J, and Towne B. 2004. Genetic architecture of the human skull during growth. Acta Medica Auxologica Abstracts for X International Congress of Auxology:98-99.

Sherwood RJ, Duren DL, Blangero J, and Towne B. 2004. The genetic epidemiology of complex traits in the human cranium. 4th International Conference on the Genetic Epidemiology of Complex Traits.

Sherwood RJ, Duren DL, Blangero J, and Towne B. 2005. Phyletic valence of craniofacial traits: clues from quantitative genetics. Am J Phys Anthropol Suppl. 40:194.

Sherwood RJ, Duren DL, Czerwinski SA, Blangero J, and Towne B. 2003. Quantitative genetics of modern human craniofacial variation: implications for the interpretation of the hominin fossil record. Am J Phys Anthropol Suppl. 36:190.

Sherwood RJ, Duren DL, Demerath EW, Czerwinski SA, Siervogel RM, and Towne B. 2008. Quantitative genetics of modern human cranial variation. J Hum Evol 54:909-914. 

Sherwood RJ, Duren DL, Williams-Blangero S, Blangero J, Shrestha R, Subedi J, Jha B, and Towne B. 2007. Heritability of the human jaw and dentition. Am J Phys Anthropol Suppl. 44:217.

Sherwood, RJ, Mahaney, MC, Duren, DL, Havill, LM, Cox, LA, Rogers, J, Blangero, J, Dyer, T, Cole, SA, Czerwinski, SA, Siervogel, RM, Towne, B. 2009. Comparative genomics of the primate craniofacial complex (Presented at the annual meetings of the Society of Craniofacial Genetics, Oct. 20, 2009, Honolulu, HI). Available from http://www.craniofacialgenetics.org.

Sherwood RJ, May RL, Meindl RS, and Robinson HB. 1992. Growth alteration in the pathological human fetus. Am J Phys Anthropol Suppl. 14:150.

Sherwood RJ, Meindl RS, Robinson HB, and May RL. 1999. Estimation of fetal age. Am J Phys Anthropol Suppl. 28:249.

Sherwood RJ, Meindl RS, Robinson HB, and May RL. 2000. Fetal age: methods of estimation and effects of pathology. Am J Phys Anthropol 113:305-315. 

Sherwood RJ, Robinson HB, May RL, and Meindl RS. 1992. Standardized residuals as a means for detection of growth alteration in the pathologic human fetus. Teratology 46:419-427. 

Sherwood RJ, Robinson HB, Meindl RS, and May RL. 1997. Pattern and process of growth of the abnormal human fetus. Hum Biol 69:849-871. 

Snodgrass JJ, Antón SC, Crowder C, Di Fiore A, Duren DL, Fernandez-Duque E, Leonard WR, Leigh SR, Madimenos FC, McGraw WS, Middleton E, Schmitt C, Sherwood RJ, Stinson S, Stubblefield P, Turner T, Valeggia CR, and White FJ. 2009. Integrative measurement protocol for morphological and behavioral research in human biology. Hum Biol. Am.J.Hum.Biol. 21:269-270.

Spees VJ, Czerwinski SA, Duren DL, Reed DW, Chumlea WC, Lee M, Sun SS, Towne B, Sherwood RJ, Demerath EW, and Siervogel RM. 2006. Prediction of bone mineral density from calcaneal ultrasound in adolescents: The Fels Longitudinal Study. Med Sci Sports Exerc 38:S532.

Towne B, Blangero J, Czerwinski SA, Demerath EW, Duren DL, Williams KD, Dyer T, Cole SA, Sherwood RJ, Chumlea WmC, and Siervogel RM. 2008. Multivariate genome-wide linkage scan of age at menarche and contemporaneous skeletal age and body mass in healthy girls from the Fels Longitudinal Study. Available at www.ashg.org.

Towne, B, Williams, KD, Blangero, J, Czerwinski, SA, Demerath, EW, Dyer, TD, Nahhas, RW, Cole, SA, Lee, M, Choh, AC, Duren, DL, Sherwood, RJ, Chumlea, WmC, Siervogel, RM. Presentation, heritability, and genome-wide linkage analysis of the mid-childhood growth spurt in healthy children from the Fels Longitudinal Study. Hum.Biol. 80: 623-636.

Williams KD, Blangero J, Cottom C, Lawrence S, Choh A, Czerwinski SA, Lee M, Duren DL, Sherwood RJ, Dyer T, Subedi J, Jha B, Williams-Blangero S, and Towne B. 2007. Heritability of brachydactyly type A3 in children, adolescents, and young adults from an endogamous population in Eastern Nepal. Hum Biol 79:609-622.