Variation of BMP3 contributes to dog breed skull diversity.
Jeffrey J. Schoenebeck,Sarah A. Hutchinson,Alexandra M. Byers,Holly C. Beale,Blake Carrington,Daniel L. Faden,Maud Rimbault,Brennan Decker,Jeffrey M. Kidd,Raman Sood,Adam R. Boyko,John W. Fondon,Robert K. Wayne,Carlos Bustamante,Brian Ciruna,Elaine A. Ostrander +15 more
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TLDR
This study reveals the causal variant for a canine QTL contributing to a major morphologic trait and uncovers a missense mutation in BMP3.Abstract:
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.read more
Citations
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A comprehensive transcriptional map of primate brain development
Trygve E. Bakken,Jeremy A. Miller,Songlin Ding,Susan M. Sunkin,Kimberly A. Smith,Lydia Ng,Aaron Szafer,Rachel A. Dalley,Joshua J. Royall,Tracy Lemon,Sheila Shapouri,Kaylynn Aiona,James M. Arnold,Jeffrey L. Bennett,Darren Bertagnolli,Kristopher Bickley,Andrew F. Boe,Krissy Brouner,Stephanie Butler,Emi J. Byrnes,Shiella Caldejon,Anita Carey,Shelby Cate,Mike Chapin,Jefferey Chen,Nick Dee,Tsega Desta,Tim A. Dolbeare,Nadia Dotson,Amanda Ebbert,Erich Fulfs,Garrett Gee,Terri L. Gilbert,Jeff Goldy,Lindsey Gourley,Ben W. Gregor,Guangyu Gu,Jon Hall,Zeb Haradon,David R. Haynor,Nika Hejazinia,Anna Hoerder-Suabedissen,Robert Howard,Jay Jochim,Marty Kinnunen,Ali Kriedberg,Chihchau L. Kuan,Christopher Lau,Changkyu Lee,Felix Lee,Lon T. Luong,Naveed Mastan,Ryan May,Jose Melchor,Nerick Mosqueda,Erika Mott,Kiet Ngo,Julie Nyhus,Aaron Oldre,Eric Olson,Jody Parente,Patrick D. Parker,Sheana Parry,Julie Pendergraft,Lydia Potekhina,Melissa Reding,Zackery L. Riley,Tyson Roberts,Brandon Rogers,Kate Roll,David Rosen,David Sandman,Melaine Sarreal,Nadiya V. Shapovalova,Shu Shi,Nathan Sjoquist,Andy J. Sodt,Robbie Townsend,Lissette Velasquez,Udi Wagley,Wayne Wakeman,Cassandra White,Crissa Bennett,Jennifer Wu,R.D. Young,Brian L. Youngstrom,Paul Wohnoutka,Richard A. Gibbs,Jeffrey Rogers,John G. Hohmann,Michael Hawrylycz,Robert F. Hevner,Zoltán Molnár,John W. Phillips,Chinh Dang,Allan R. Jones,David G. Amaral,Amy Bernard,Ed S. Lein +98 more
TL;DR: A high-resolution transcriptional atlas of rhesus monkey (Macaca mulatta) brain development is described that combines dense temporal sampling of prenatal and postnatal periods with fine anatomical division of cortical and subcortical regions associated with human neuropsychiatric disease.
Journal ArticleDOI
Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia
Amy K. Kiefer,Joyce Y. Tung,Chuong B. Do,David A. Hinds,Joanna L. Mountain,Uta Francke,Nicholas Eriksson +6 more
TL;DR: The largest ever genome-wide association study on myopia in Europeans performs a survival analysis on age of myopia onset and identifies 22 significant associations, two of which are replications of earlier associations with refractive error.
Journal ArticleDOI
Complex disease and phenotype mapping in the domestic dog.
Jessica J. Hayward,Marta Castelhano,Kyle C. Oliveira,Elizabeth Corey,Cheryl E. Balkman,Tara L. Baxter,Margret L. Casal,Meiying Fang,Susan J. Garrison,Sara E. Kalla,Pavel Korniliev,Michael I. Kotlikoff,N. S. Moise,Laura M. Shannon,Kenneth W. Simpson,Nathan B. Sutter,Rory J. Todhunter,Adam R. Boyko +17 more
TL;DR: The largest canine genome-wide association study to date, with a panel of over 4,200 dogs genotyped at 180,000 markers, is undertaken, to accelerate mapping efforts of canine complex diseases.
Journal ArticleDOI
An improved canine genome and a comprehensive catalogue of coding genes and non-coding transcripts.
Marc P. Hoeppner,Andrew L. Lundquist,Andrew L. Lundquist,Mono Pirun,Jennifer R. S. Meadows,Neda Zamani,Jeremy Johnson,Görel Sundström,April Cook,Michael Fitzgerald,Ross Swofford,Evan Mauceli,Behrooz Torabi Moghadam,Anna Greka,Jessica Alföldi,Amr Abouelleil,Lynne Aftuck,Daniel Bessette,Aaron M. Berlin,Adam Brown,Gary Gearin,Annie Lui,Pendexter Macdonald,Margaret Priest,Terrance Shea,Jason Turner-Maier,Andrew Zimmer,Eric S. Lander,Federica Di Palma,Federica Di Palma,Kerstin Lindblad-Toh,Kerstin Lindblad-Toh,Manfred Grabherr,Manfred Grabherr +33 more
TL;DR: An improved genome build, canFam3.1, is presented and a much-improved annotation of the canine genome is provided and regulatory functions for several of the novel non-coding transcripts are suggested.
Posted Content
Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia
Amy K. Kiefer,Joyce Y. Tung,Chuong B. Do,David A. Hinds,Joanna L. Mountain,Uta Francke,Nicholas Eriksson +6 more
TL;DR: In this paper, the authors performed a survival analysis on age of myopia onset and identified 19 significant associations (p < 5e-8), two of which are replications of earlier associations with refractive error.
References
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