Variation in BMPR1B, TGFRB1 and BMPR2 and control of dizygotic twinning

Twin Research and Human Genetics

Volumn 14, Issue 5, 2011, Pages 408-416

  Luong, Hien T T ^a   Chaplin, Justin ^a   McRae, Allan F ^a   Medland, Sarah E ^a   Willemsen, Gonneke ^a   Nyholt, Dale R ^a   Henders, Anjali K ^a   Hoekstra, Chantal ^b   Duffy, David L ^a   Martin, Nicholas G ^a   Boomsma, Dorret I ^b   Montgomery, Grant W ^a   Painter, Jodie N ^a  

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^b VU UNIVERSITY AMSTERDAM   (Netherlands)

Author keywords

BMPR1B; BMPR2; Dizygotic twinning; High resolution melt; TGFBR1

Indexed keywords

BONE MORPHOGENETIC PROTEIN 15; BONE MORPHOGENETIC PROTEIN RECEPTOR 1B; BONE MORPHOGENETIC PROTEIN RECEPTOR 2; GLUTAMIC ACID; GLUTAMINE; GROWTH DIFFERENTIATION FACTOR 9; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIZYGOTIC TWINS; EXON; GENE FREQUENCY; GENE FUNCTION; GENETIC LINKAGE; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HUMAN; INTRON; OVARY FOLLICLE DEVELOPMENT; OVULATION; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN VARIANT; REGULATORY MECHANISM; SIGNAL TRANSDUCTION;

BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE I; BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE II; DNA; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; HUMANS; POLYMERASE CHAIN REACTION; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; SIGNAL TRANSDUCTION; TWINS, DIZYGOTIC;

OVIS ARIES;

EID: 80053487229     PISSN: 18324274     EISSN: None     Source Type: Journal    
DOI: 10.1375/twin.14.5.408     Document Type: Article

References (38)

1. Davis, G. H., Balakrishnan, L., Ross, I. K., Wilson, T., Galloway, S. M., Lumsden, B. M., Hanrahan, J. P., Mullen, M., Mao, X. Z., Wang, G. L., Zhao, Z. S., Zeng, Y. Q., Robinson, J. J., Mavrogenis, A. P., Papachristoforou, C., Peter, C., Baumung, R., Cardyn, P., Boujenane, I., Cockett, N. E., Eythorsdottir, E., Arranz, J. J., & Notter, D. R. (2006). Investigation of the Booroola (FecB) and Inverdale (FecX(I)) mutations in 21 prolific breeds and strains of sheep sampled in 13 countries. Animal Reproduction Science, 92, 87-96. (Pubitemid 43163050)
2. Davis, G. H., Galloway, S. A., Ross, I. K., Gregan, S. M., Ward, J., Nimbkar, B. V., Ghalsasi, P. M., Nimbkar, C., Gray, G. D., Subandriyo., Inounu, I., Tiesnamurti, B., Martyniuk, E., Eythorsdottir, E., Mulsant, P., Lecerf, F., Hanrahan, J. P., Bradford, G. E., & Wilson, T. (2002). DNA tests in prolific sheep from eight countries provide new evidence on origin of the Booroola (FecB) mutation. Biology of Reproduction, 66, 1869-1874. (Pubitemid 34552230)
3. Demirhan, O., Turkmen, S., Schwabe, G. C., Soyupak, S., Akgul, E., Tastemir, D., Karahan, D., Mundlos, S., & Lehmann, K. (2005). A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. Journal of Medical Genetics, 42, 314-317. (Pubitemid 40523953)
4. Derynck, R., & Zhang, Y. E. (2003). Smad-dependent and Smad-independent pathways in TGF-beta family signaling. Nature, 425, 577-584. (Pubitemid 37280136)
5. Di Pasquale, E., Beck-Peccoz, P., & Persani, L. (2004). Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. American Journal of Human Genetics, 75, 106-111. (Pubitemid 38801906)
6. Dixit, H., Rao, L. K., Padmalatha, V., Kanakavalli, M., Deenadayal, M., Gupta, N., Chakravarty, B., & Singh, L. (2005). Mutational screening of the coding region of growth differentiation factor 9 gene in Indian women with ovarian failure. Menopause, 12, 749-754. (Pubitemid 41669128)
7. Dixit, H., Rao, L. K., Padmalatha, V. V., Kanakavalli, M., Deenadayal, M., Gupta, N., Chakrabarty, B., & Singh, L. (2006). Missense mutations in the BMP15 gene are associated with ovarian failure. Human Genetics, 119, 408-415.
8. Duffy, D. L., Montgomery, G. W., Hall, J., Mayne, C., Healey, S. C., Brown, J., Boomsma, D. I., & Martin, N. G. (2001). Human twinning is not linked to the region of chromosome 4 syntenic with the sheep twinning gene FecB. American Journal of Medical Genetics, 100, 182-186. (Pubitemid 32303915)
9. Galloway, S. M., McNatty, K. P., Cambridge, L. M., Laitinen, M. P. E., Juengel, J. L., Jokiranta, T. S., McLaren, R. J., Luiro, K., Dodds, K. G., Montgomery, G. W., Beattie, A. E., Davis, G. H., & Ritvos, O. (2000). Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner. Nature Genetics, 25, 279-283. (Pubitemid 30437312)
10. Hanrahan, J. P., Gregan, S. M., Mulsant, P., Mullen, M., Davis, G. H., Powell, R., & Galloway, S. M. (2004). Mutations in the genes for oocyte-derived growth factors GDF9 and BMP15 are associated with both increased ovulation rate and sterility in Cambridge and Belclare sheep (Ovis aries). Biology of Reproduction, 70, 900-909. (Pubitemid 38387698)
11. Juengel, J. L., & McNatty, K. P. (2005). The role of proteins of the transforming growth factor-beta superfamily in the intraovarian regulation of follicular development. Human Reproduction Update, 11, 144-161.
12. Krenkova, P., Norambuena, P., Stambergova, A., & Macek, M. (2009). Evaluation of high-resolution melting (HRM) for mutation scanning of selected exons of the CFTR gene. Folia Biologica, 55, 238-242.
13. Laissue, P., Christin-Maitre, S., Touraine, P., Kuttenn, F., Ritvos, O., Aittomäki, K., Bourcigaux, N., Jacquesson, L., Bouchard, P., Frydman, R., Dewailly, D., Reyss, A. C., Jeffery, L., Bachelot, A., Massin, N., Fellous, M., & Veitia, R. A. (2006). Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure. European Journal of Endocrinology, 154, 739-744. (Pubitemid 43810861)
14. Lane, K. B., Machado, R. D., Pauciulo, M. W., Thomson, J. R., Phillips, J. A., Loyd, J. E., Nichols, W. C., Trembath, R. C., & International P. P. H. Consortium. (2000). Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. Nature Genetics, 26, 81-84.
15. Lehmann, K., Seemann, P., Boergermann, J., Morin, G., Reif, S., Knaus, P., & Mundlos, S. (2006). A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. European Journal of Human Genetics, 14, 1248-1254. (Pubitemid 44804030)
16. Lehmann, K., Seemann, P., Stricker, S., Sammar, M., Meyer, B., Suring, K., Majewski, F., Tinschert, S., Grzeschik, K. H., Muller, D., Knaus, P., Nurnberg, P., & Mundlos, S. (2003). Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proceedings of the National Academy of Sciences USA, 100, 12277-12282. (Pubitemid 37271551)
17. Loeys, B. L., Chen, J. J., Neptune, E. R., Judge, D. P., Podowski, M., Holm, T., Meyers, J., Leitch, C. C., Katsanis, N., Sharifi, N., Xu, F. L., Myers, L. A., Spevak, P. J., Cameron, D. E., De Backer, J., Hellemans, J., Chen, Y., Davis, E. C., Webb, C. L., Kress, W., Coucke, P., Rifkin, D. B., De Paepe, A. M., & Dietz, H. C. (2005). A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nature Genetics, 37, 275-281. (Pubitemid 41716254)
18. McNatty, K. P., Moore, L. G., Hudson, N. L., Quirke, L. D., Lawrence, S. B., Reader, K., Hanrahan, J. P., Smith, P., Groome, N. P., Laitinen, M., Ritvos, O., & Juengel, J. L. (2004). The oocyte and its role in regulating ovulation rate: A new paradigm in reproductive biology. Reproduction, 128, 379-386. (Pubitemid 39386360)
19. Medland, S. E., Nyholt, D. R., Painter, J. N., McEvoy, B. P., McRae, A. F., Zhu, G., Gordon, S. D., Ferreira, M. A. R., Wright, M. J., Henders, A. K., Campbell, M. J., Duffy, D. L., Hansell, N. K., Macgregor, S., Slutske, W. S., Heath, A. C., Montgomery, G. W., & Martin, N. G. (2009). Common variants in the trichohyalin gene are associated with straight hair in Europeans. American Journal of Human Genetics, 85, 750-755.
20. Miller, S. A., Dykes, D. D., & Polesky, H. F. (1988). A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research, 16, 1215-1215.
21. Montgomery, G. W., Zhao, Z. Z., Marsh, A. J., Mayne, R., Treloar, S. A., James, M., Martin, N. G., Boomsma, D. I., & Duffy, D. L. (2004). A deletion mutation in GDF9 in sisters with spontaneous DZ twins. Twin Research, 7, 548-555. (Pubitemid 39643555)
22. Moore, R. K., Otsuka, F., & Shimasaki, S. (2003). Molecular basis of bone morphogenetic protein-15 signaling in granulosa cells. Journal of Biological Chemistry, 278, 304-310. (Pubitemid 36043577)
23. Mulsant, P., Lecerf, F., Fabre, S., Schibler, L., Monget, P., Lanneluc, I., Pisselet, C., Riquet, J., Monniaux, D., Callebaut, I., Cribiu, E., Thimonier, J., Teyssier, J., Bodin, L., Cognie, Y., Chitour, N., & Elsen, J. M. (2001). Mutation in bone morphogenetic protein receptor-IB is associated with increased ovulation rate in Booroola Merino ewes. Proceedings of the National Academy of Sciences USA, 98, 5104-5109. (Pubitemid 32397090)
24. Nyholt, D. R. (2006). On the probability of dizygotic twins being concordant for two alleles at multiple polymorphic loci. Twin Research and Human Genetics, 9, 194-197.
25. Painter, J. N., Willemsen, G., Nyholt, D., Hoekstra, C., Duffy, D. L., Henders, A. K., Wallace, L., Healey, S., Cannon-Albright, L. A., Skolnick, M., Martin, N. G., Boomsma, D. I., & Montgomery, G. W. (2010). A genome wide linkage scan for dizygotic twinning in 525 families of mothers of dizygotic twins. Human Reproduction, 25, 1569-1580.
26. Palmer, J. S., Zhao, Z. Z., Hoekstra, C., Hayward, N. K., Webb, P. M., Whiteman, D. C., Martin, N. G., Boomsma, D. I., Duffy, D. L., & Montgomery, G. W. (2006). Novel variants in growth differentiation factor 9 in mothers of dizygotic twins. Journal of Clinical Endocrinology & Metabolism, 91, 4713-4716. (Pubitemid 44833463)
27. Pangas, S. A., & Matzuk, M. M. (2008). The TGF- &βετα; Family in the reproductive tract. In R. Derynck & K. Miyazono (Eds.), The TGF- &βετα; family (pp. 861-888). New York: Cold Spring Harbor Laboratory Press.
28. Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., De Bakker, P. I. W., Daly, M. J., & Sham, P. C. (2007). PLINK: A tool set for whole-genome association and population-based linkage analyses. American Journal of Human Genetics, 81, 559-575. (Pubitemid 47330214)
29. Purcu, D. U., Karaca, B., Kapkac, M., Ozdemir, N., Uzunoglu, S., & Uslu, R. (2010). High-resolution melting analysis for screening of Turkish germline mutations in BRCA1 and BRCA2. Uhod-Uluslararasi Hematoloji-Onkoloji Dergisi, 20, 235-240.
30. Reed, G. H., & Wittwer, C. T. (2004). Sensitivity and specificity of single-nucleotide polymorphism scanning by high-resolution melting analysis. Clinical Chemistry, 50, 1748-1754. (Pubitemid 39298003)
31. Rozen, S., & Skaletsky, H. (1999). Primer3 on the WWW for general users and for biologist programmers Methods in Molecular Biology, 132, 365-386.
32. Thomson, J. R., Machado, R. D., Pauciulo, M. W., Morgan, N. V., Humbert, M., Elliott, G. C., Ward, K., Yacoub, M., Mikhail, G., Rogers, P., Newman, J., Wheeler, L., Higenbottam, T., Gibbs, J. S. R., Egan, J., Crozier, A., Peacock, A., Allcock, R., Corris, P., Loyd, J. E., Trembath, R. C., & Nichols, W. C. (2000). Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family. Journal of Medical Genetics, 37, 741-745.
33. van der Stoep, N., van Paridon, C. D. M., Janssens, T., Krenkova, P., Stambergova, A., Macek, M., Matthijs, G., & Bakker, E. (2009). Diagnostic guidelines for High-Resolution Melting curve (HRM) analysis: An interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner (TM). Human Mutation, 30, 899-909.
34. Vitt, U. A., Mazerbourg, S., Klein, C., & Hsueh, A. J. W. (2002). Bone morphogenetic protein receptor type II is a receptor for growth differentiation factor-9. Biology of Reproduction, 67, 473-480. (Pubitemid 34803932)
35. White, H., & Potts, G. (2006). Mutation scanning by high resolution melt analysis. Evaluation of Rotor-Gene 6000 (Corbett Life Science), HR-1 and 384 well LightScanner (Idaho technology). National Genetics Reference Laboratory, 1-45.
36. Wilson, T., Wu, X. Y., Juengel, J. L., Ross, I. K., Lumsden, J. M., Lord, E. A., Dodds, K. G., Walling, G. A., McEwan, J. C., O'Connell, A. R., McNatty, K. P., & Montgomery, G. W. (2001). Highly prolific Booroola sheep have a mutation in the intracellular kinase domain of bone morphogenetic protein IB receptor (ALK-6) that is expressed in both oocytes and granulosa cells. Biology of Reproduction, 64, 1225-1235. (Pubitemid 32239195)
37. Wittwer, C. T. (2009). High-resolution DNA melting analysis: Advancements and limitations. Human Mutation, 30, 857-859.
38. Zhao, Z. Z., Painter, J. N., Palmer, J. S., Webb, P. M., Hayward, N. K., Whiteman, D. C., Boomsma, D. I., Martin, N. G., Duffy, D. L., & Montgomery, G. W. (2008). Variation in bone morphogenetic protein 15 is not associated with spontaneous human dizygotic twinning. Human Reproduction, 23, 2372-2379.