Ben-Asher E, Zelzer E, Lancet D. 2005. LEMD3: The gene responsible for bone density disorders (osteopoikilosis). Israel Medical Association Journal, 7, 273–274.Bengtsson L. 2007. What MAN1 does to the smads. TGFbeta/BMP signaling and the nuclear envelope. FEBS Journal, 274, 1374–1382.Bourgeois B, Gilquin B, Tellier-Lebegue C, Ostlund C, Wu W, Perez J, EI Hage P, Lallemand F, Worman H J, Zinn-Justin S. 2013. Inhibition of TGF-beta signaling at the nuclear envelope: characterization of interactions between MAN1, Smad2 and Smad3, and PPM1A. Science Signal, 6, doi: 10.1126/scisignal.2003411Boyko A R, Quignon P, Li L, Schoenebeck J J, Degenhardt J D, Lohmueller K E, Zhao K, Brisbin A, Parker H G, vonHoldt B M, Cargill M, Auton A, Reynolds A, Elkahloun A G, Castelhano M, Mosher D S, Sutter N B, Johnson G S, Novembre J, Hubisz M J, et al. 2010. A simple genetic architecture underlies morphological variation in dogs. PLos Biology, 8, e1000451.Burger B, Hershkovitz D, Indelman M, Kovac M, Galambos J, Haeusermann P, Sprecher E, Itin P H. 2010. Buschke-Ollendorff syndrome in a three-generation family: Influence of a novel LEMD3 mutation to tropoelastin expression. European Journal of Dermatology, 20, 693–697.Burland T G. 2000. DNASTAR’s laser gene sequence analysis software. Methods in Molecular Biology, 132, 71–91.Capon F, Allen M H, Ameen M, Burden A D, Tillman D, Barker J N, Trembath R C. 2004. A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups. Human Molecular Genetics, 13, 2361–2368.Caputo S, Couprie J, Duband-Goulet I, Konde E, Lin F, Braud S, Gondry M, Gilquin B, Worman H J, Zinn-Justin S. 2006. The carboxyl-terminal nucleoplasmic region of MAN1 exhibits a DNA binding winged helix domain. Journal of Biological Chemistry, 281, 18208–18215.Chomczynski P, Sacchi N. 2006. The single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction: Twenty-something years on. Nature Protocols, 1, 581–585.Duan J, Wainwright M S, Comeron J M, Saitou N, Sanders A R, Gelernter J, Gejman P V. 2003. Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor. Human Molecular Genetics, 12, 205–216.Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk P C, Costa T, Janssens K, Menten B, Van Roy N, Vermeulen S J, Savarirayan R, Van Hul W, Vanhoenacker F, Huylebroeck D, De Paepe A, Naeyaert J M, Vandesompele J, Speleman F, Verschueren K, Coucke P J, et al. 2004. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nature Genetics, 36, 1213–1218.Jarvela A M, Hinman V F. 2015. Evolution of transcription factor function as a mechanism for changing metazoan developmental gene regulatory networks. Evodevo, 6, doi: 10.1186/2041-9139-6-3Konde E, Bourgeois B, Tellier-Lebegue C, Wu W, Perez J, Caputo S, Attanda W, Gasparini S, Charbonnier J B, Gilquin B, Worman H J, Zinn-Justin S. 2010. Structural analysis of the Smad2-MAN1 interaction that regulates transforming growth factor-beta signaling at the inner nuclear membrane. Biochemistry (US), 49, 8020–8032.Li P H, Xiao S J, Wei N, Zhang Z Y, Huang R H, Gu Y Q, Guo Y M, Ren J, Huang L S, Chen C Y. 2012. Fine mapping of a QTL for ear size on porcine chromosome 5 and identification of high mobility group AT-hook 2 (HMGA2) as a positional candidate gene. Genetics Selection Evolution, 44, doi: 10.1186/1297-9686-44-6Lin F, Blake D L, Callebaut I, Skerjanc I S, Holmer L, McBurney M W, Paulin-Levasseur M, Worman H J. 2000. MAN1, an inner nuclear membrane protein that shares the LEM domain with lamina-associated polypeptide 2 and emerin. Journal of Biological Chemistry, 275, 4840–4847.Liu X, Wang LG, Liang J, Yan H, Zhao K B, Li N, Zhang L C, Wang L X. 2014. Genome-wide association study for certain carcass traits and organ weights in a Large White×Minzhu intercross porcine population. Journal of Integrative Agriculture, 13, 2721–2730.Luo W Z, Cheng D X, Chen S K, Wang L G, Li Y, Ma X J, Song X, Liu X, Li W, Liang J , Yan H, Zhao K, Wang C, Wang L, Zhang L. 2012. Genome-wide association analysis of meat quality traits in a porcine Large White×Minzhu intercross population. International Journal of Biological Sciences, 8, 580–595.Ma J, Qi W, Ren D, Duan Y, Qiao R, Guo Y, Yang Z, Li L, Milan D, Ren J, Huang L. 2009. A genome scan for quantitative trait loci affecting three ear traits in a White Duroc×Chinese Erhualian resource population. Animal Genetics, 40, 463–467.Mans B J, Anantharaman V, Aravind L, Koonin E V. 2004. Comparative genomics, evolution and origins of the nuclear envelope and nuclear pore complex. Cell Cycle, 3, 1612–1637.Min S K, Eui N K, Hojoung L, Jin W K, Se C C, Ki D K. 2005. Digital image analysis to measure lesion area of cucumber anthracnose by Colletotrichum orbiculare. Journal of General Plant Pathology, 71, 418–421.Mullenbach R, Lagoda P J, Welter C. 1989. An efficient salt-chloroform extraction of DNA from blood and tissues. Trends in Genetics, 5, 391.Mumm S, Wenkert D, Zhang X F, McAlister W H, Mier R J, Whyte M P. 2007. Deactivating germline mutations in LEMD3 cause osteopoikilosis and buschke-ollendorff syndrome, but not sporadic melorheostosis. Journal of Bone and Mineral Research, 22, 243–250.Osada S I, Ohmori S, Taira M. 2003. XMAN1, an inner nuclear membrane protein, antagonizes BMP signaling by interacting with Smad1 in Xenopus embryos. Development, 130, 1783–1794.Paulin-Levasseur M, Blake D L, Julien M, Rouleau L. 1996. The MAN antigens are non-lamin constituents of the nuclear lamina in vertebrate cells. Chromosoma, 104, 367–379.Raju G P, Dimova N, Klein P S, Huang H C. 2003. SANE, a novel LEM domain protein, regulates bone morphogenetic protein signaling through interaction with Smad1. Journal of Biological Chemistry, 278, 428–437.Ren J, Duan Y Y, Qiao R M, Yao F, Zhang Z Y, Yang B, Guo Y M, Xiao S J, Wei R X, Ouyang Z X, Ding N, Ai H, Huang L. 2011. A missense mutation in PPARD causes a major QTL effect on ear eize in pigs. PLoS Genetics, 7, e1002043.Rothschild M F, Ruvinsky A. 1998. The Genetics of the Pig. CAB International, Oxon, UK.Safe S, Imanirad P, Sreevalsan S, Nair V, Jutooru I. 2014. Transcription factor Sp1, also known as specificity protein 1 as a therapeutic target. Expert Opinion on Therapeutic Targets, 18, 759–769.Sankpal U T, Goodison S, Abdelrahim M, Basha R. 2011. Targeting Sp1 transcription factors in prostate cancer therapy. Medicinal Chemistry, 7, 518–525.Snider L. 2012. Photoshop CS6: The Missing Manual. O’Reilly Media, Sebastopol, CA. pp. 165–167.Tamura K, Dudley J, Nei M, Kumar S. 2007. MEGA4: Molecular Evolutionary Genetics Analysis (MEGA) software version 4.0. Molecular Biology and Evolution, 24, 1596–1599.Thompson J D, Gibson T J, Plewniak F, Jeanmougin F, Higgins D G. 1997. The CLUSTAL_X windows interface: Flexible strategies for multiple sequence alignment aided by quality analysis tools. Nucleic Acids Research, 25, 4876–4882.Vaysse A, Ratnakumar A, Derrien T, Axelsson E, Pielberg G R, Sigurdsson S, Fall T, Seppala E H, Hansen M S T, Lawley C T, Karlsson E K, Bannasch D, Vilà C, Lohi H, Galibert F, Fredholm M, Häggström J, Hedhammar A, André C, Lindblad-Toh K, et al. 2011. Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping. Plos Genetics, 7, e1002316.Wei W H, de Koning D J, Penman J C, Finlayson H A, Archibald A L, Haley C S. 2007. QTL modulating ear size and erectness in pigs. Animal Genetics, 38, 222–226.Wilkinson S, Lu Z H, Megens H J, Archibald A L, Haley C, Jackson I J, Groenen M A, Crooijmans R P, Ogden R, Wiener P. 2013. Signatures of diversifying selection in european pig breeds. Plos Genetics, 9, e1003453.Yadegari M, Whyte M P, Mumm S, Phelps R G, Shanske A, Totty W G, Cohen S R. 2010. Buschke-Ollendorff syndrome absence of LEMD3 mutation in an affected family. Archives of Dermatology, 146, 63–68.Yuste-Chaves M, Canueto J, Santos-Briz A, Ciria S, Gonzalez-Sarmiento R, Unamuno P. 2011. Buschke-Ollendorff syndrome with striking phenotypic variation resulting from a novel c.2203C>T nonsense mutation in LEMD3. Pediatric Dermatology, 28, 447–450.Zhang L C, Liang J, Luo W Z, Liu X, Yan H, Zhao K B, Shi H B, Zhang Y B, Wang L G, Wang L X. 2014. Genome-wide scan reveals LEMD3 and WIF1 on SSC5 as the candidates for porcine ear size. PloS ONE, 9, e102085.Zhang Y, Castori M, Ferranti G, Paradisi M, Wordsworth B P. 2009. Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis. Clinical Genetics, 75, 556–561.Zhang Z G, Li B D, Chen X H. 1986. Pig Breeds in China. Shanghai Scientific and Technical Publisher, China. (in Chinese)Zhou G L, Dudgeon C, Li M, Cao Y, Zhang L C, Jin H G. 2010. Molecular cloning of the HGD gene and association of SNPs with meat quality traits in Chinese red cattle. Molecular Biology Reports, 37, 603–611.Zhou S H, Eid K, Glowacki J. 2004. Cooperation between TGF-beta and Wnt pathways during chondrocyte and adipocyte differentiation of human marrow stromal cells. Journal of Bone and Mineral Research, 19, 463–470. |