Identification of duplication downstream of BMP2 in a Chinese family with brachydactyly type A2 (BDA2)

PLoS ONE

Volumn 9, Issue 4, 2014, Pages

  Liu, Xudong ^a   Gao, Linghan ^a   Zhao, Aman ^a   Zhang, Rui ^b   Ji, Baohu ^c   Wang, Lei ^a   Zheng, Yonglan ^d   Zeng, Bingfang ^a   Valenzuela, Robert K ^e   He, Lin ^a   Jie, Ma ^b,c  

^a SHANGHAI JIAO TONG UNIVERSITY   (China)

^b MEDICAL SCHOOL OF XI AN JIAOTONG UNIVERSITY   (China)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF CHICAGO   (United States)

^e GENOME INSTITUTE OF SINGAPORE   (Singapore)

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN 2; BMP2 PROTEIN, HUMAN; BMPR1B PROTEIN, HUMAN; BONE MORPHOGENETIC PROTEIN RECEPTOR 1; GDF5 PROTEIN, HUMAN; GROWTH DIFFERENTIATION FACTOR 5;

ARTICLE; BRACHYDACTYLY; BRACHYDACTYLY TYPE A2; CHROMOSOME 20P; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE CLASSIFICATION; FEMALE; GENE DUPLICATION; GENE IDENTIFICATION; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENE SEGREGATION; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC VARIABILITY; HUMAN; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PROTEIN FUNCTION; ASIAN CONTINENTAL ANCESTRY GROUP; CHROMOSOME BREAKAGE; GENETICS; PEDIGREE;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; BONE MORPHOGENETIC PROTEIN 2; BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE I; BRACHYDACTYLY; CHROMOSOME BREAKPOINTS; FEMALE; GENE DUPLICATION; GROWTH DIFFERENTIATION FACTOR 5; HUMANS; MALE; PEDIGREE; PHENOTYPE;

EID: 84899431854     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0094201     Document Type: Article

References (57)

1. Temtamy SA, Aglan MS (2008) Brachydactyly. Orphanet J Rare Dis 3: 15.
2. Bell J (1951) On brachydactyly and symphalangism. In Treasury of Human Inheritance Volume 5. London: Cambridge University Press: pp.1-31.
3. Temtamy S, McKusick V (1978) The Genetics of Hand Malformations New York: Alan R Liss, INC.
4. Kornak U, Mundlos S (2003) Genetic disorders of the skeleton: a developmental approach. Am J Hum Genet 73: 447-474. (Pubitemid 37076262)
5. Gao B, Guo J, She C, Shu A, Yang M, et al. (2001) Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. Nat Genet 28: 386-388. (Pubitemid 32702431)
6. Gao B, Hu J, Stricker S, Cheung M, Ma G, et al. (2009) A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range. Nature 458: 1196-1200.
7. Guo S, Zhou J, Gao B, Hu J, Wang H, et al. (2010) Missense mutations in IHH impair Indian Hedgehog signaling in C3H10T1/2 cells: Implications for brachydactyly type A1, and new targets for Hedgehog signaling. Cell Mol Biol Lett 15: 153-176.
8. Ma G, Yu J, Xiao Y, Chan D, Gao B, et al. (2011) Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels. Cell Res 21: 1343-1357.
9. Armour CM, McCready ME, Baig A, Hunter AG, Bulman DE (2002) A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2. J Med Genet 39: 186-188.
10. Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, et al. (2000) Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. Nat Genet 24: 275-278. (Pubitemid 30132197)
11. Schwabe GC, Tinschert S, Buschow C, Meinecke P, Wolff G, et al. (2000) Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. Am J Hum Genet 67: 822-831.
12. Akbarzadeh S, Wheldon LM, Sweet SM, Talma S, Mardakheh FK, et al. (2008) The deleted in brachydactyly B domain of ROR2 is required for receptor activation by recruitment of Src. PLoS One 3: e1873.
13. Lehmann K, Seemann P, Silan F, Goecke TO, Irgang S, et al. (2007) A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. Am J Hum Genet 81: 388-396. (Pubitemid 47236086)
14. Polinkovsky A, Robin NH, Thomas JT, Irons M, Lynn A, et al. (1997) Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat Genet 17: 18-19.
15. Johnson D, Kan SH, Oldridge M, Trembath RC, Roche P, et al. (2003) Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. Am J Hum Genet 72: 984-997. (Pubitemid 36403316)
16. Mohr O, Wriedt C (1919) A New Type of Hereditary Brachyphalangy in Man Washington: Carnegie Inst: pp.5-64.
17. Lehmann K, Seemann P, Stricker S, Sammar M, Meyer B, et al. (2003) Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proc Natl Acad Sci U S A 100: 12277-12282. (Pubitemid 37271551)
18. Lehmann K, Seemann P, Boergermann J, Morin G, Reif S, et al. (2006) A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/ symphalangism-like phenotype or brachydactyly type A2. Eur J Hum Genet 14: 1248-1254. (Pubitemid 44804030)
19. Seemann P, Schwappacher R, Kjaer KW, Krakow D, Lehmann K, et al. (2005) Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. J Clin Invest 115: 2373-2381. (Pubitemid 41266199)
20. Kjaer KW, Eiberg H, Hansen L, van der Hagen CB, Rosendahl K, et al. (2006) A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. J Med Genet 43: 225-231.
21. Ploger F, Seemann P, Schmidt-von Kegler M, Lehmann K, Seidel J, et al. (2008) Brachydactyly type A2 associated with a defect in proGDF5 processing. Hum Mol Genet 17: 1222-1233. (Pubitemid 351566959)
22. Dathe K, Kjaer KW, Brehm A, Meinecke P, Nurnberg P, et al. (2009) Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. Am J Hum Genet 84: 483-492.
23. Su P, Ding H, Huang D, Zhou Y, Huang W, et al. (2011) A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family. J Med Genet 48: 312-316.
24. Fitch N (1979) Classification and identification of inherited brachydactylies. J Med Genet 16: 36-44.
25. Mundlos S (2009) The brachydactylies: a molecular disease family. Clin Genet 76: 123-136.
26. Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, et al. (2001) The sequence of the human genome. Science 291: 1304-1351. (Pubitemid 32173090)
27. Nobrega MA, Ovcharenko I, Afzal V, Rubin EM (2003) Scanning human gene deserts for long-range enhancers. Science 302: 413. (Pubitemid 37296259)
28. Kimura-Yoshida C, Kitajima K, Oda-Ishii I, Tian E, Suzuki M, et al. (2004) Characterization of the pufferfish Otx2 cis-regulators reveals evolutionarily conserved genetic mechanisms for vertebrate head specification. Development 131: 57-71. (Pubitemid 38111415)
29. Uchikawa M, Takemoto T, Kamachi Y, Kondoh H (2004) Efficient identification of regulatory sequences in the chicken genome by a powerful combination of embryo electroporation and genome comparison. Mech Dev 121: 1145-1158. (Pubitemid 39024622)
30. Ovcharenko I, Loots GG, Nobrega MA, Hardison RC, Miller W, et al. (2005) Evolution and functional classification of vertebrate gene deserts. Genome Res 15: 137-145.
31. Kleinjan DA, van Heyningen V (2005) Long-range control of gene expression: emerging mechanisms and disruption in disease. Am J Hum Genet 76: 8-32. (Pubitemid 40023762)
32. Chandler RL, Chandler KJ, McFarland KA, Mortlock DP (2007) Bmp2 transcription in osteoblast progenitors is regulated by a distant 39 enhancer located 156.3 kilobases from the promoter. Mol Cell Biol 27: 2934-2951. (Pubitemid 46581308)
33. Styrkarsdottir U, Cazier JB, Kong A, Rolfsson O, Larsen H, et al. (2003) Linkage of osteoporosis to chromosome 20p12 and association to BMP2. PLoS Biol 1: E69.
34. Sammar M, Stricker S, Schwabe GC, Sieber C, Hartung A, et al. (2004) Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2. Genes Cells 9: 1227-1238. (Pubitemid 39618536)
35. Allendorph GP, Vale WW, Choe S (2006) Structure of the ternary signaling complex of a TGF-beta superfamily member. Proc Natl Acad Sci U S A 103: 7643-7648.
36. Kawabata M, Chytil A, Moses HL (1995) Cloning of a novel type II serine/ threonine kinase receptor through interaction with the type I transforming growth factor-beta receptor. J Biol Chem 270: 5625-5630.
37. Derynck R, Zhang YE (2003) Smad-dependent and Smad-independent pathways in TGF-beta family signalling. Nature 425: 577-584. (Pubitemid 37280136)
38. Nohe A, Hassel S, Ehrlich M, Neubauer F, Sebald W, et al. (2002) The mode of bone morphogenetic protein (BMP) receptor oligomerization determines different BMP-2 signaling pathways. J Biol Chem 277: 5330-5338. (Pubitemid 34968578)
39. Tsuji K, Bandyopadhyay A, Harfe BD, Cox K, Kakar S, et al. (2006) BMP2 activity, although dispensable for bone formation, is required for the initiation of fracture healing. Nat Genet 38: 1424-1429. (Pubitemid 44837565)
40. Storm EE, Kingsley DM (1999) GDF5 coordinates bone and joint formation during digit development. Dev Biol 209: 11-27. (Pubitemid 29194309)
41. Baur ST, Mai JJ, Dymecki SM (2000) Combinatorial signaling through BMP receptor IB and GDF5: shaping of the distal mouse limb and the genetics of distal limb diversity. Development 127: 605-619. (Pubitemid 30093408)
42. Long F, Ornitz DM (2013) Development of the endochondral skeleton. Cold Spring Harb Perspect Biol 5: a008334.
43. Bandyopadhyay A, Tsuji K, Cox K, Harfe BD, Rosen V, et al. (2006) Genetic analysis of the roles of BMP2, BMP4, and BMP7 in limb patterning and skeletogenesis. PLoS Genet 2: e216.
44. Lee JA, Carvalho CM, Lupski JR (2007) A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 131: 1235-1247. (Pubitemid 350297419)
45. Sugiura T (1999) Cloning and functional characterization of the 59-flanking region of the human bone morphogenetic protein-2 gene. Biochem J 338 (Pt 2): 433-440.
46. Ghosh-Choudhury N, Choudhury GG, Harris MA, Wozney J, Mundy GR, et al. (2001) Autoregulation of mouse BMP-2 gene transcription is directed by the proximal promoter element. Biochem Biophys Res Commun 286: 101-108. (Pubitemid 32917655)
47. Feng JQ, Xing L, Zhang JH, Zhao M, Horn D, et al. (2003) NF-kappaB specifically activates BMP-2 gene expression in growth plate chondrocytes in vivo and in a chondrocyte cell line in vitro. J Biol Chem 278: 29130-29135. (Pubitemid 36935828)
48. Zhao M, Qiao M, Harris SE, Chen D, Oyajobi BO, et al. (2006) The zinc finger transcription factor Gli2 mediates bone morphogenetic protein 2 expression in osteoblasts in response to hedgehog signaling. Mol Cell Biol 26: 6197-6208. (Pubitemid 44204537)
49. Fritz DT, Liu D, Xu J, Jiang S, Rogers MB (2004) Conservation of Bmp2 post-transcriptional regulatory mechanisms. J Biol Chem 279: 48950-48958. (Pubitemid 39625776)
50. Abrams KL, Xu J, Nativelle-Serpentini C, Dabirshahsahebi S, Rogers MB (2004) An evolutionary and molecular analysis of Bmp2 expression. J Biol Chem 279: 15916-15928. (Pubitemid 38509279)
51. Kronenberg HM (2003) Developmental regulation of the growth plate. Nature 423: 332-336.
52. Yoon BS, Lyons KM (2004) Multiple functions of BMPs in chondrogenesis. J Cell Biochem 93: 93-103.
53. Mackie EJ, Ahmed YA, Tatarczuch L, Chen KS, Mirams M (2008) Endochondral ossification: how cartilage is converted into bone in the developing skeleton. Int J Biochem Cell Biol 40: 46-62. (Pubitemid 350052658)
54. Minina E, Kreschel C, Naski MC, Ornitz DM, Vortkamp A (2002) Interaction of FGF, Ihh/Pthlh, and BMP signaling integrates chondrocyte proliferation and hypertrophic differentiation. Dev Cell 3: 439-449.
55. Hay E, Lemonnier J, Fromigue O, Marie PJ (2001) Bone morphogenetic protein-2 promotes osteoblast apoptosis through a Smad-independent, protein kinase C-dependent signaling pathway. J Biol Chem 276: 29028-29036.
56. Xing QH, Wang MT, Chen XD, Feng GY, Ji HY, et al. (2003) A gene locus responsible for dyschromatosis symmetrica hereditaria (DSH) maps to chromosome 6q24.2-q25.2. Am J Hum Genet 73: 377-382.
57. Ovcharenko I, Nobrega MA, Loots GG, Stubbs L (2004) ECR Browser: a tool for visualizing and accessing data from comparisons of multiple vertebrate genomes. Nucleic Acids Res 32: W280-286. (Pubitemid 38997344)