A Common Variation in EDAR Is a Genetic Determinant of Shovel-Shaped Incisors

American Journal of Human Genetics

Volumn 85, Issue 4, 2009, Pages 528-535

  Kimura, Ryosuke ^a,b   Yamaguchi, Tetsutaro ^c   Takeda, Mayako ^d   Kondo, Osamu ^d   Toma, Takashi ^e   Haneji, Kuniaki ^a   Hanihara, Tsunehiko ^f   Matsukusa, Hirotaka ^d   Kawamura, Shoji ^d   Maki, Koutaro ^c   Osawa, Motoki ^b   Ishida, Hajime ^a   Oota, Hiroki ^d  

^a UNIVERSITY OF THE RYUKYUS   (Japan)

^b TOKAI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c SHOWA UNIVERSITY   (Japan)

^d UNIVERSITY OF TOKYO   (Japan)

^e Adventist Medical Center   (Japan)

^f KITASATO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

EDAR RECEPTOR; EDAR PROTEIN, HUMAN;

AFRICAN AMERICAN; ALLELE; AMERICAN INDIAN; ARTICLE; ASIAN AMERICAN; CORRELATION COEFFICIENT; EUROPEAN AMERICAN; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC TRAIT; GENETIC VARIABILITY; GENOTYPE; GEOGRAPHIC DISTRIBUTION; HEREDITY; HERITABILITY; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; INCISOR; JAPAN; JAPANESE; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRINCIPAL COMPONENT ANALYSIS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TOOTH SIZE; BIOLOGICAL MODEL; GENETICS; GENOME; HISTOLOGY; PHYSIOLOGY; REGRESSION ANALYSIS; TOOTH;

ALLELES; EDAR RECEPTOR; FEMALE; GENETIC VARIATION; GENOME; GENOTYPE; HUMANS; JAPAN; MALE; MODELS, GENETIC; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; PRINCIPAL COMPONENT ANALYSIS; REGRESSION ANALYSIS; TOOTH;

EID: 70350474766     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.09.006     Document Type: Article

References (40)

1. Hanihara T. Morphological variation of major human populations based on nonmetric dental traits. Am. J. Phys. Anthropol. 136 (2008) 169-182
2. Hanihara K. Racial characteristics in the dentition. J. Dent. Res. 46 (1967) 923-926
3. Turner II C.G. Major features of Sundadonty and Sinodonty, including suggestions about East Asian microevolution, population history, and late Pleistocene relationships with Australian aboriginals. Am. J. Phys. Anthropol. 82 (1990) 295-317
4. Mizoguchi Y. Shovelling: A statistical analysis of its morphology. Bulletin 26, The Univeristy Museum (1985), University of Tokyo Press, Tokyo
5. Scott G.R., and Turner II C.G. The Anthropology of Modern Human Teeth: Dental Morphology and Its Variation in Recent Human Populations (1997), Cambridge University Press, Cambridge, UK
6. Brace C.L., and Nagai M. Japanese tooth size: Past and present. Am. J. Phys. Anthropol. 59 (1982) 399-411
7. Turner II C.G. Dental anthropological indications of agriculture among the Jomon people of central Japan. X. Peopling of the Pacific. Am. J. Phys. Anthropol. 51 (1979) 619-636
8. Hanihara T., and Ishida H. Metric dental variation of major human populations. Am. J. Phys. Anthropol. 128 (2005) 287-298
9. Weidenreich, F. (1937). The dentition of Sinanthropus pekinensis: A comparative odontography of the hominids. Palaeontolagia Sinica, New Series D, Whole Series No. 101, No. 1.
10. Wolpoff M.H. Multiregional evolution: The fossil alternative to Eden. In: Stringer C.B. (Ed). The Human Revolution (1989), Edinburgh University Press, Edinburgh, UK 62-108
11. Hanihara K., Masuda T., and Tanaka T. Family studies of the shovel trait in the maxillary central incisor. Journal of the Anthropological Society of Nippon 83 (1974) 107-112
12. Mizoguchi Y. Genetic variability in tooth crown characters: Analysis by the tetrachoric correlation method. Bulletin of the National Science Museum. Series D, Anthropology 3 (1977) 37-62
13. Blanco R., and Chakraborty R. The genetics of shovel shape in maxillary central incisors in man. Am. J. Phys. Anthropol. 44 (1976) 233-236
14. Kimura R., Fujimoto A., Tokunaga K., and Ohashi J. A practical genome scan for population-specific strong selective sweeps that have reached fixation. PLoS ONE 2 (2007) e286
15. Sabeti P.C., Varilly P., Fry B., Lohmueller J., Hostetter E., Cotsapas C., Xie X., Byrne E.H., McCarroll S.A., Gaudet R., et al. Genome-wide detection and characterization of positive selection in human populations. Nature 449 (2007) 913-918
16. The International HapMap Consortium. A haplotype map of the human genome. Nature 437 (2005) 1299-1320
17. Monreal A.W., Ferguson B.M., Headon D.J., Street S.L., Overbeek P.A., and Zonana J. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat. Genet. 22 (1999) 366-369
18. Tucker A.S., Headon D.J., Schneider P., Ferguson B.M., Overbeek P., Tschopp J., and Sharpe P.T. Edar/Eda interactions regulate enamel knot formation in tooth morphogenesis. Development 127 (2000) 4691-4700
19. Schmidt-Ullrich R., Aebischer T., Hulsken J., Birchmeier W., Klemm U., and Scheidereit C. Requirement of NF-kappaB/Rel for the development of hair follicles and other epidermal appendices. Development 128 (2001) 3843-3853
20. Tucker A.S., Headon D.J., Courtney J.M., Overbeek P., and Sharpe P.T. The activation level of the TNF family receptor, Edar, determines cusp number and tooth number during tooth development. Dev. Biol. 268 (2004) 185-194
21. Pispa J., Mustonen T., Mikkola M.L., Kangas A.T., Koppinen P., Lukinmaa P.L., Jernvall J., and Thesleff I. Tooth patterning and enamel formation can be manipulated by misexpression of TNF receptor Edar. Dev. Dyn. 231 (2004) 432-440
22. Mustonen T., Pispa J., Mikkola M.L., Pummila M., Kangas A.T., Pakkasjarvi L., Jaatinen R., and Thesleff I. Stimulation of ectodermal organ development by Ectodysplasin-A1. Dev. Biol. 259 (2003) 123-136
23. Fraser G.J., Bloomquist R.F., and Streelman J.T. A periodic pattern generator for dental diversity. BMC Biol. 6 (2008) 32
24. Harris M.P., Rohner N., Schwarz H., Perathoner S., Konstantinidis P., and Nusslein-Volhard C. Zebrafish eda and edar mutants reveal conserved and ancestral roles of ectodysplasin signaling in vertebrates. PLoS Genet. 4 (2008) e1000206
25. Fujimoto A., Ohashi J., Nishida N., Miyagawa T., Morishita Y., Tsunoda T., Kimura R., and Tokunaga K. A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia. Hum. Genet. 124 (2008) 179-185
26. Fujimoto A., Kimura R., Ohashi J., Omi K., Yuliwulandari R., Batubara L., Mustofa M.S., Samakkarn U., Settheetham-Ishida W., Ishida T., et al. A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness. Hum. Mol. Genet. 17 (2008) 835-843
27. Toma T., Hanihara T., Sunakawa H., Haneji K., and Ishida H. Metric dental diversity of Ryukyu Islanders: A comparative study among Ryukyu and other Asian populations. Anthropol. Sci. 119 (2007) 119-131
28. Haneji K., Hanihara T., Sunakawa H., Toma T., and Ishida H. Nonmetric dental variation of Sakishima Islanders, Okinawa, Japan: A comparative study among Sakishima and neighboring populations. Anthropol. Sci. 115 (2007) 119-131
29. Turner II C.G., Nichol C.R., and Scott G.R. Scoring procedures for key morphological traits of the parmanent dentition. ASU Dental Anthropology System. In: Larsen C.S. (Ed). Advances in Dental Anthropology (1991), Wiley-Liss, New York 13-32
30. Higa T., Hanihara T., Sunakawa H., and Ishida H. Dental variation of Ryukyu islanders: A comparative study among Ryukyu, Ainu, and other Asian populations. Am. J. Hum. Biol. 15 (2003) 127-143
31. Yamaguchi-Kabata Y., Nakazono K., Takahashi A., Saito S., Hosono N., Kubo M., Nakamura Y., and Kamatani N. Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: Effects on population-based association studies. Am. J. Hum. Genet. 83 (2008) 445-456
32. Bailey S.E. A closer look at Neanderthal postcanine dental morphology: The mandibular dentition. Anat. Rec. 269 (2002) 148-156
33. Harris E.F. Sex differences in lingual marginal ridging on the human maxillary central incisor. Am. J. Phys. Anthropol. 52 (1980) 541-548
34. Rothhammer F., Lasserre E., Blanco R., Covarrubias E., and Dixon M. Microevolution in human Chilean populations. IV. Shovel shape, mesial-palatal version and other dental traits in Pewenche Indians. Z. Morphol. Anthropol. 60 (1968) 162-169
35. Garn S.M., Cole P.E., Wainwright R.L., and Guire K.E. Sex discriminatory effectiveness using combinations of permanent teeth. J. Dent. Res. 56 (1977) 697
36. Harris E.F., and Bailit H.L. A principal components analysis of human odontometrics. Am. J. Phys. Anthropol. 75 (1988) 87-99
37. Matsukusa H., Oota H., Haneji K., Toma T., Kawamura S., and Ishida H. A genetic analysis on the Sakishima Islanders reveals no relationship with Taiwan aborigines but Ainu and main-island Japanese. Am. J. Phys. Anthropol. (2010) in press
38. Carlson C.S., Thomas D.J., Eberle M.A., Swanson J.E., Livingston R.J., Rieder M.J., and Nickerson D.A. Genomic regions exhibiting positive selection identified from dense genotype data. Genome Res. 15 (2005) 1553-1565
39. Bryk J., Hardouin E., Pugach I., Hughes D., Strotmann R., Stoneking M., and Myles S. Positive selection in East Asians for an EDAR allele that enhances NF-kappaB activation. PLoS ONE 3 (2008) e2209
40. Mou C., Thomason H.A., Willan P.M., Clowes C., Harris W.E., Drew C.F., Dixon J., Dixon M.J., and Headon D.J. Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form. Hum. Mutat. 29 (2008) 1405-1411