MAMLD1 and 46,XY disorders of sex development

Seminars in Reproductive Medicine

Volumn 30, Issue 5, 2012, Pages 410-416

  Ogata, Tsutomu ^a   Sano, Shinichirou ^a   Nagata, Eiko ^a   Kato, Fumiko ^b   Fukami, Maki ^b  

^a HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

46,XY DSD; hypospadias; MAMLD1; testosterone

Indexed keywords

MASTERMIND LIKE DOMAIN CONTAINING 1; MEMBRANE PROTEIN; NOTCH RECEPTOR; STEROIDOGENIC FACTOR 1; TESTOSTERONE; UNCLASSIFIED DRUG;

ANIMAL CELL CULTURE; ARTICLE; CANCER CELL CULTURE; CELL NUCLEUS INCLUSION BODY; DISEASE PREDISPOSITION; FRAMESHIFT MUTATION; GENE DELETION; HAPLOTYPE; HUMAN; HYDROXYLATION; HYPOSPADIAS; IN VITRO STUDY; KARYOTYPE 46,XY; LEYDIG CELL; NONHUMAN; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; PROTEIN LOCALIZATION; SERTOLI CELL; SEX DIFFERENTIATION DISORDER; SEXUAL DEVELOPMENT; TESTOSTERONE SYNTHESIS; TRANSACTIVATION;

46, XY DISORDERS OF SEX DEVELOPMENT; ANIMALS; DNA-BINDING PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HETEROZYGOTE; HUMANS; HYPOSPADIAS; LEYDIG CELLS; MALE; MUTATION; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; TESTOSTERONE; TRANSCRIPTION FACTORS;

EID: 84867029740     PISSN: 15268004     EISSN: 15264564     Source Type: Journal    
DOI: 10.1055/s-0032-1324725     Document Type: Article

References (31)

1. Fukami M., Wada Y., Miyabayashi K., et al. CXorf6 is a causative gene for hypospadias. Nat Genet: 2006; 38 12 1369 1371
2. Hu L. J., Laporte J., Kress W., et al. Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430kb region. Hum Mol Genet: 1996; 5 1 139 143
3. Laporte J., Guiraud-Chaumeil C., Vincent M. C., et al. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. Hum Mol Genet: 1997; 6 9 1505 1511
4. Bartsch O., Kress W., Wagner A., Seemanova E. The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case. Cytogenet Cell Genet: 1999; 85 34 310 314
5. Biancalana V., Caron O., Gallati S., et al. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Hum Genet: 2003; 112 2 135 142
6. Laporte J., Kioschis P., Hu L. J., et al. Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy. Genomics: 1997; 41 3 458 462
7. Ogata T., Laporte J., Fukami M. MAMLD1 (CXorf6): a new gene involved in hypospadias. Horm Res: 2009; 71 5 245 252
8. Kuzmiak H. A., Maquat L. E. Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges. Trends Mol Med: 2006; 12 7 306 316
9. Fukami M., Wada Y., Okada M., et al. Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence. J Biol Chem: 2008; 283 9 5525 5532
10. Tsai T. C., Horinouchi H., Noguchi S., et al. Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240kb deletion in Xq28 without male hypogenitalism. Neuromuscul Disord: 2005; 15 3 245 252
11. Kalfa N., Liu B., Klein O., et al. Mutations of CXorf6 are associated with a range of severities of hypospadias. Eur J Endocrinol: 2008; 159 4 453 458
12. Chen Y., Thai H. T., Lundin J., et al. Mutational study of the MAMLD1-gene in hypospadias. Eur J Med Genet: 2010; 53 3 122 126
13. Brandão M. P., Costa E. M., Fukami M., et al. MAMLD1 (mastermind-like domain containing 1) homozygous gain-of-function missense mutation causing 46,XX disorder of sex development in a virilized female. Adv Exp Med Biol: 2011; 707 129 131
14. Zitzmann M. The role of the CAG repeat androgen receptor polymorphism in andrology. Front Horm Res: 2009; 37 52 61
15. O'Shaughnessy P. J., Baker P. J., Monteiro A., Cassie S., Bhattacharya S., Fowler P. A. Developmental changes in human fetal testicular cell numbers and messenger ribonucleic acid levels during the second trimester. J Clin Endocrinol Metab: 2007; 92 12 4792 4801
16. Morohashi K. I., Omura T. Ad4BP/SF-1, a transcription factor essential for the transcription of steroidogenic cytochrome P450 genes and for the establishment of the reproductive function. FASEB J: 1996; 10 14 1569 1577
17. Parker K. L., Schimmer B. P. Steroidogenic factor 1: a key determinant of endocrine development and function. Endocr Rev: 1997; 18 3 361 377
18. Nakamura M., Fukami M., Sugawa F., Miyado M., Nonomura K., Ogata T. Mamld1 knockdown reduces testosterone production and Cyp17a1 expression in mouse Leydig tumor cells. PLoS ONE: 2011; 6 4 e19123
19. Panesar N. S., Chan K. W., Ho C. S. Mouse Leydig tumor cells produce C-19 steroids, including testosterone. Steroids: 2003; 68 3 245 251
20. Ascoli M., Puett D. Gonadotropin binding and stimulation of steroidogenesis in Leydig tumor cells. Proc Natl Acad Sci U S A: 1978; 75 1 99 102
21. Rebois R. V. Establishment of gonadotropin-responsive murine leydig tumor cell line. J Cell Biol: 1982; 94 1 70 76
22. Achermann J. C., Hughes I. A. Disorders of sex development. In: Kronenberg H. M., Melmed M., Polonsky K. S., Larsen P. R., eds. Williams textbook of endocrinology. 11th editions. Philadelphia Saunders: 2008; 783 848
23. Lin S. E., Oyama T., Nagase T., Harigaya K., Kitagawa M. Identification of new human mastermind proteins defines a family that consists of positive regulators for notch signaling. J Biol Chem: 2002; 277 52 50612 50620
24. Wu L., Sun T., Kobayashi K., Gao P., Griffin J. D. Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors. Mol Cell Biol: 2002; 22 21 7688 7700
25. Artavanis-Tsakonas S., Rand M. D., Lake R. J. Notch signaling: cell fate control and signal integration in development. Science: 1999; 284 5415 770 776
26. Iso T., Kedes L., Hamamori Y. HES and HERP families: multiple effectors of the Notch signaling pathway. J Cell Physiol: 2003; 194 3 237 255
27. Nam Y., Sliz P., Song L., Aster J. C., Blacklow S. C. Structural basis for cooperativity in recruitment of MAML coactivators to Notch transcription complexes. Cell: 2006; 124 5 973 983
28. Wilson J. J., Kovall R. A. Crystal structure of the CSL-Notch-Mastermind ternary complex bound to DNA. Cell: 2006; 124 5 985 996
29. Tonon G., Modi S., Wu L., et al. t(11;19)(q21;p13) translocation in mucoepidermoid carcinoma creates a novel fusion product that disrupts a Notch signaling pathway. Nat Genet: 2003; 33 2 208 213
30. Androutsellis-Theotokis A., Leker R. R., Soldner F., et al. Notch signalling regulates stem cell numbers in vitro and in vivo. Nature: 2006; 442 7104 823 826
31. Ito M., Achermann J. C., Jameson J. L. A naturally occurring steroidogenic factor-1 mutation exhibits differential binding and activation of target genes. J Biol Chem: 2000; 275 41 31708 31714