Variation of BMP3 Contributes to Dog Breed Skull Diversity

被引：131

作者：

Schoenebeck, Jeffrey J. ^{[1
]}

Hutchinson, Sarah A. ^{[2
]}

Byers, Alexandra ^{[1
]}

Beale, Holly C. ^{[1
]}

Carrington, Blake

Faden, Daniel L. ^{[1
]}

Rimbault, Maud ^{[1
]}

Decker, Brennan ^{[1
]}

Kidd, Jeffrey M. ^{[3
]}

Sood, Raman

Boyko, Adam R. ^{[4
]}

Fondon, John W., III ^{[5
]}

Wayne, Robert K. ^{[6
]}

Bustamante, Carlos D. ^{[3
]}

Ciruna, Brian ^{[2
,7
]}

Ostrander, Elaine A. ^{[1
]}

机构：

[1] NHGRI, Canc Genet Branch, Bethesda, MD 20892 USA

[2] Hosp Sick Children, Program Dev & Stem Cell Biol, Toronto, ON M5G 1X8, Canada

[3] Stanford Sch Med, Dept Genet, Stanford, CA USA

[4] Cornell Univ, Coll Vet Med, Dept Biomed Sci, Ithaca, NY 14853 USA

[5] Univ Texas Arlington, Dept Biol, Arlington, TX 76019 USA

[6] Univ Calif Los Angeles, Dept Ecol & Evolutionary Biol, Los Angeles, CA USA

[7] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada

来源：

PLOS GENETICS | 2012年 / 8卷 / 08期

基金：

美国国家科学基金会; 英国生物技术与生命科学研究理事会; 加拿大自然科学与工程研究理事会;

关键词：

CHROMOSOME ASSIGNMENT; GENETIC-ANALYSIS; SELECTIVE SWEEP; ZEBRAFISH; ASSOCIATION; EXPRESSION; SEQUENCE;

D O I：

10.1371/journal.pgen.1002849

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Since the beginnings of domestication, the craniofacial architecture of the domestic dog has morphed and radiated to human whims. By beginning to define the genetic underpinnings of breed skull shapes, we can elucidate mechanisms of morphological diversification while presenting a framework for understanding human cephalic disorders. Using intrabreed association mapping with museum specimen measurements, we show that skull shape is regulated by at least five quantitative trait loci (QTLs). Our detailed analysis using whole-genome sequencing uncovers a missense mutation in BMP3. Validation studies in zebrafish show that Bmp3 function in cranial development is ancient. Our study reveals the causal variant for a canine QTL contributing to a major morphologic trait.

引用

页数：11

共 48 条

[1] A method and server for predicting damaging missense mutations [J].

Adzhubei, Ivan A. ;

Schmidt, Steffen ;

Peshkin, Leonid ;

Ramensky, Vasily E. ;

Gerasimova, Anna ;

Bork, Peer ;

Kondrashov, Alexey S. ;

Sunyaev, Shamil R. .

NATURE METHODS, 2010, 7 (04) :248-249

[2] Interrogating a high-density SNP map for signatures of natural selection [J].

Akey, JM ;

Zhang, G ;

Zhang, K ;

Jin, L ;

Shriver, MD .

GENOME RESEARCH, 2002, 12 (12) :1805-1814

[3] BMP-3 and BMP-6 structures illuminate the nature of binding specificity with receptors [J].

Allendorph, George P. ;

Isaacs, Michael J. ;

Kawakami, Yasuhiko ;

Belmonte, Juan Carlos Izpisua ;

Choe, Senyon .

BIOCHEMISTRY, 2007, 46 (43) :12238-12247

[4] Localization of Canine Brachycephaly Using an Across Breed Mapping Approach [J].

Bannasch, Danika ;

Young, Amy ;

Myers, Jeffrey ;

Truve, Katarina ;

Dickinson, Peter ;

Gregg, Jeffrey ;

Davis, Ryan ;

Bongcam-Rudloff, Eric ;

Webster, Matthew T. ;

Lindblad-Toh, Kerstin ;

Pedersen, Niels .

PLOS ONE, 2010, 5 (03)

[5] Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech [J].

Bonnet, C. ;

Andrieux, J. ;

Beri-Dexheimer, M. ;

Leheup B, B. ;

Boute, O. ;

Manouvrier, S. ;

Delobel, B. ;

Copin, H. ;

Receveur, A. ;

Mathieu, M. ;

Thiriez, G. ;

Le Caignec, C. ;

David, A. ;

de Blois, M. C. ;

Malan, V. ;

Philippe, A. ;

Cormier-Daire, V. ;

Colleaux, L. ;

Flori, E. ;

Dollfus, H. ;

Pelletier, V. ;

Thauvin-Robinet, C. ;

Masurel-Paulet, A. ;

Faivre, L. ;

Tardieu, M. ;

Bahi-Buisson, N. ;

Callier, P. ;

Mugneret, F. ;

Edery, P. ;

Jonveaux, P. ;

Sanlaville, D. .

JOURNAL OF MEDICAL GENETICS, 2010, 47 (06) :377-384

[6] A Simple Genetic Architecture Underlies Morphological Variation in Dogs [J].

Boyko, Adam R. ;

Quignon, Pascale ;

Li, Lin ;

Schoenebeck, Jeffrey J. ;

Degenhardt, Jeremiah D. ;

Lohmueller, Kirk E. ;

Zhao, Keyan ;

Brisbin, Abra ;

Parker, Heidi G. ;

vonHoldt, Bridgett M. ;

Cargill, Michele ;

Auton, Adam ;

Reynolds, Andy ;

Elkahloun, Abdel G. ;

Castelhano, Marta ;

Mosher, Dana S. ;

Sutter, Nathan B. ;

Johnson, Gary S. ;

Novembre, John ;

Hubisz, Melissa J. ;

Siepel, Adam ;

Wayne, Robert K. ;

Bustamante, Carlos D. ;

Ostrander, Elaine A. .

PLOS BIOLOGY, 2010, 8 (08) :49-50

[7] Cyclic GMP-dependent protein kinase II is a molecular switch from proliferation to hypertrophic differentiation of chondrocytes [J].

Chikuda, H ;

Kugimiya, F ;

Hoshi, K ;

Ikeda, T ;

Ogasawara, T ;

Shimoaka, T ;

Kawano, H ;

Kamekura, S ;

Tsuchida, A ;

Yokoi, N ;

Nakamura, K ;

Komeda, K ;

Chung, UI ;

Kawaguchi, H .

GENES & DEVELOPMENT, 2004, 18 (19) :2418-2429

[8] Bone morphogenetic protein-3 is a negative regulator of bone density [J].

Daluiski, A ;

Engstrand, T ;

Bahamonde, ME ;

Gamer, LW ;

Agius, E ;

Stevenson, SL ;

Cox, K ;

Rosen, V ;

Lyons, KM .

NATURE GENETICS, 2001, 27 (01) :84-88

[9] Molecular origins of rapid and continuous morphological evolution [J].

Fondon, JW ;

Garner, HR .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2004, 101 (52) :18058-18063

[10] BMP-3 is a novel inhibitor of both activin and BMP-4 signaling in Xenopus embryos [J].

Gamer, LW ;

Nove, J ;

Levin, M ;

Rosen, V .

DEVELOPMENTAL BIOLOGY, 2005, 285 (01) :156-168

← 1 2 3 4 5 →