Testicular differentiation factor SF-1 is required for human spleen development

Journal of Clinical Investigation

Volumn 124, Issue 5, 2014, Pages 2071-2075

  Zangen, David ^a   Kaufman, Yotam ^b,c   Banne, Ehud ^a   Weinberg Shukron, Ariella ^b,c   Abulibdeh, Abdulsalam ^a   Garfinkel, Benjamin P ^d   Dweik, Dima ^e   Kanaan, Moein ^e   Camats, Núria ^f   Flück, Christa ^f   Renbaum, Paul ^b   Levy Lahad, Ephrat ^b,c  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b SHAARE ZEDEK MEDICAL CENTER   (Israel)

^c HEBREW UNIVERSITY   (Israel)

^d HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^e BETHLEHEM UNIVERSITY   (Israel)

^f UNIVERSITY OF BERN   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROSTENEDIONE; ARGININE; CORTICOTROPIN; ELECTROLYTE; GLUTAMINE; PRASTERONE; STEROID 17ALPHA MONOOXYGENASE; STEROIDOGENIC FACTOR 1; TESTIS DETERMINING FACTOR; TESTOSTERONE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR SOX9; TRANSCRIPTION FACTOR TLX1; UNCLASSIFIED DRUG;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; ASPLENIA; CASE REPORT; CODON; DISORDER OF SEX DEVELOPMENT; ELECTROLYTE BLOOD LEVEL; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; KARYOTYPE 46,XY; LEYDIG CELL; ORGANOGENESIS; PRIORITY JOURNAL; RECESSIVE MUTATION; SERTOLI CELL; SPLEEN; SPLEEN DEVELOPMENT; STEROIDOGENESIS; TESTOSTERONE BLOOD LEVEL; TESTOSTERONE SYNTHESIS; TISSUE DIFFERENTIATION; TRANSACTIVATION; TRANSCRIPTION INITIATION;

AMINO ACID SUBSTITUTION; ANIMALS; CERCOPITHECUS AETHIOPS; CHO CELLS; CODON; COS CELLS; CRICETINAE; CRICETULUS; HEK293 CELLS; HETEROTAXY SYNDROME; HOMEODOMAIN PROTEINS; HUMANS; MALE; MICE; MUTATION, MISSENSE; PROTO-ONCOGENE PROTEINS; SEX-DETERMINING REGION Y PROTEIN; SOX9 TRANSCRIPTION FACTOR; SPLEEN; STEROIDOGENIC FACTOR 1; TRANSCRIPTIONAL ACTIVATION;

EID: 84899733381     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI73186     Document Type: Article

References (27)

1. Luo X, Ikeda Y, Parker KL. A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. Cell. 1994; 77(4):481-490.
2. Shen WH, Moore CC, Ikeda Y, Parker KL, Ingraham HA. Nuclear receptor steroidogenic factor 1 regulates the mullerian inhibiting substance gene: a link to the sex determination cascade. Cell. 1994; 77(5):651-661.
3. Sekido R, Lovell-Badge R. Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer. Nature. 2008;453(7197):930-934.
4. Soardi FC, Coeli FB, Maciel-Guerra AT, Guerra-Junior G, Mello MP. Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study. J Appl Genet. 2010;51(2):223-224.
5. Achermann JC, et al. Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. J Clin Endocrinol Metab. 2002;87(4):1829-1833.
6. Wilson TE, Fahrner TJ, Milbrandt J. The orphan receptors NGFI-B and steroidogenic factor 1 establish monomer binding as a third paradigm of nuclear receptor-DNA interaction. Mol Cell Biol. 1993;13(9):5794-5804.
7. Little TH, et al. Sequence-specific deoxyribonucleic acid (DNA) recognition by steroidogenic factor 1: a helix at the carboxy terminus of the DNA binding domain is necessary for complex stability. Mol Endocrinol. 2006;20(4):831-843.
8. Ueda H, Sun GC, Murata T, Hirose S. A novel DNA-binding motif abuts the zinc finger domain of insect nuclear hormone receptor FTZ-F1 and mouse embryonal long terminal repeat-binding protein. Mol Cell Biol. 1992;12(12):5667-5672.
9. Morohashi K, et al. Structural and functional abnormalities in the spleen of an mFtz-F1 genedisrupted mouse. Blood. 1999;93(5):1586-1594.
10. Lu M, Gong ZY, Shen WF, Ho AD. The tcl-3 protooncogene altered by chromosomal translocation in T-cell leukemia codes for a homeobox protein. EMBO J. 1991;10(10):2905-2910.
11. Roberts CW, Shutter JR, Korsmeyer SJ. Hox11 controls the genesis of the spleen. Nature. 1994; 368(6473):747-749.
12. Lourenco D, et al. Mutations in NR5A1 associated with ovarian insufficiency. N Engl J Med. 2009;360(12):1200-1210.
13. Achermann JC, Ito M, Hindmarsh PC, Jameson JL. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat Genet. 1999;22(2):125-126.
14. Sills RH. Splenic function: physiology and splenic hypofunction. Crit Rev Oncol Hematol. 1987;7(1):1-36.
15. Ninomiya Y, Okada M, Kotomura N, Suzuki K, Tsukiyama T, Niwa O. Genomic organization and isoforms of the mouse ELP gene. J Biochem. 1995; 118(2):380-389.
16. Hua-Mei M, Zhe S, Yan-Hong L. P2-d2-1111: A de novo novel heterozygous deletion mutation in steroidogenic factor 1 (SF1, NR5A1) in a 46,XY patient with primary adrenal failure and splenic hypoplasia/aplasia. Presented at: 9th Joint Meeting of Paediatric Endocrinology; September 19-22, 2013; Milan, Italy.
17. Sekido R, Lovell-Badge R. Genetic control of testis development. Sex Dev. 2013;7(1-3):21-32.
18. Pilon N, et al. Porcine SRY promoter is a target for steroidogenic facto. Biol Reprod. 2003; 68(4):1098-1106.
19. Kanai Y, Hiramatsu R, Matoba S, Kidokoro T. From SRY to SOX9: mammalian testis differentiation. J Biochem. 2005;138(1):13-19.
20. Tremblay JJ, Viger RS. A mutated form of steroidogenic factor 1 (SF-1 G35E) that causes sex reversal in humans fails to synergize with transcription factor GATA-4. J Biol Chem. 2003;278(43):42637-42642.
21. Knower KC, et al. Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations. PLoS One. 2011;6(3):e17751.
22. Lin L, Achermann JC. Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development. Sex Dev. 2008;2(4-5):200-209.
23. Anuka E, et al. Infarct-induced steroidogenic acute regulatory protein: a survival role in cardiac fibroblasts. Mol Endocrinol. 2013;27(9):1502-1517.
24. Kent WJ, et al. The human genome browser at UCSC. Genome Res. 2002;12(6):996-1006.
25. Li LA, Chiang EF, Chen JC, Hsu NC, Chen YJ, Chung BC. Function of steroidogenic factor 1 domains in nuclear localization, transactivation, and interaction with transcription factor TFIIB and c-Jun. Mol Endocrinol. 1999;13(9):1588-1598.
26. Schrodinger LLC. 2010. The PyMOL Molecular Graphics System, Version 1.3r1. PyMOL Web site. http://www.pymol.org/. Accessed March 7, 2014.
27. Camats N, et al. Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals. J Clin Endocrinol Metab. 2012;97(7):E1294-E1306.