A missense mutation of the Dhh gene is associated with male pseudohermaphroditic rats showing impaired Leydig cell development

Reproduction

Volumn 141, Issue 2, 2011, Pages 217-225

  Kawai, Yasuhiro ^a,c   Noguchi, Junko ^b   Akiyama, Kouyou ^a   Takeno, Yuriko ^a   Fujiwara, Yasuhiro ^a   Kajita, Shimpei ^a   Tsuji, Takehito ^a   Kikuchi, Kazuhiro ^b   Kaneko, Hiroyuki ^b   Kunieda, Tetsuo ^a  

^a OKAYAMA UNIVERSITY   (Japan)

^b NATIONAL INSTITUTE OF AGROBIOLOGICAL SCIENCES   (Japan)

^c TOKYO UNIVERSITY OF SCIENCE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

TESTOSTERONE;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; DHH GENE; EMBRYO DEVELOPMENT; FEMALE; GENE; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; IMMUNOHISTOCHEMISTRY; LEYDIG CELL; MALE; MALE PSEUDOHERMAPHRODITISM; MICROSATELLITE MARKER; MISSENSE MUTATION; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; RAT; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; TESTIS DEVELOPMENT;

46, XY DISORDERS OF SEX DEVELOPMENT; ANIMALS; CHROMOSOME MAPPING; CHROMOSOMES, MAMMALIAN; FETUS; HEDGEHOG PROTEINS; LEYDIG CELLS; MALE; MUTATION, MISSENSE; RATS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; TESTIS; TESTOSTERONE;

ERINACEIDAE; MUS; MYOIDA; RATTUS;

EID: 78951494316     PISSN: 14701626     EISSN: 17417899     Source Type: Journal    
DOI: 10.1530/REP-10-0006     Document Type: Article

References (31)

1. Barthold JS, Kumasi-Rivers K, Upadhyay J, Shekarriz B & Imperato- Mcginley J 2000 Testicular position in the androgen insensitivity syndrome: implications for the role of androgens in testicular descent. Journal of Urology 164 497-501. (doi:10.1016/S0022-5347(05)67411-3)
2. Basciani S, Mariani S, Arizzi M, Ulisse S, Rucci N, Jannini EA, Della Rocca C, Manicone A, Carani C, Spera G & Gnessi L 2002 Expression of platelet-derived growth factor-A (PDGF-A), PDGF-B and PDGF receptor-alpha and -beta during human testicular development and disease. Journal of Clinical Endocrinology and Metabolism 87 2310-2319.
3. Bitgood MJ & McMahon AP 1995 Hedgehog and Bmp genes are coexpressed at many diverse sites of cell - cell interaction in the mouse embryo. Developmental Biology 172 126-138. (doi:10.1006/dbio.1995.0010)
4. Bitgood MJ, Shen L & McMahon AP 1996 Sertoli cell signaling by Desert hedgehog regulates the male germline. Current Biology 6 298-304. (doi:10.1016/S0960-9822(02)00480-3) (Pubitemid 3035912)
5. Brennan J, Tilmann C & Capel B 2003 Pdgfr-α mediates testis cord organization and fetal Leydig cell development in the XY gonad. Genes and Development 17 800-810. (doi:10.1101/gad.1052503)
6. Capel B, Albrecht KH, Washburn LL & Eicher EM 1999 Migration of mesonephric cells into the mammalian gonad depends on Sry. Mechanisms of Development 84 127-131. (doi:10.1016/S0925-4773(99)00047-7)
7. Clark AM, Garland KK & Russell LD 2000 Desert hedgehog (Dhh) gene is required in the mouse testis for formation of adult-type Leydig cells and normal development of peritubular cells and seminiferous tubules. Biology of Reproduction 63 1825-1838. (doi:10.1095/biolreprod63.6.1825)
8. Colvin JS, Green RP, Schmahl J, Capel B & Ornitz DM 2001 Male-to- female sex reversal in mice lacking fibroblast growth factor 9. Cell 104 875-889. (doi:10.1016/S0092-8674(01)00284-7)
9. Emmen JM, McLuskey A, Adham IM, Engel W, Grootegoed JA & Brinkmann AO 2000 Hormonal control of gubernaculum development during testis descent: gubernaculum outgrowth in vitro requires both insulin-like factor and androgen. Endocrinology 141 4720-4727. (doi:10.1210/en.141.12.4720) (Pubitemid 32055152)
10. Habert R, Lejeune H & Saez JM 2001 Origin, differentiation and regulation of fetal and adult Leydig cells. Molecular and Cellular Endocrinology 179 47-74. (doi:10.1016/S0303-7207(01)00461-0)
11. Hatano O, Takayama K, Imai T, Waterman MR, Takakusu A, Omura T & Morohashi K 1994 Sex-dependent expression of a transcription factor, Ad4BP, regulating steroidogenic P-450 genes in the gonads during prenatal and postnatal rat development. Development 120 2787-2797.
12. Ikadai H, Ajisawa C, Tsujimura S, Watanabe G, Taya K & Imamichi T 1988 A new male pseudohermaphrodite rat mutant with androgen deficiency. Journal of Reproduction and Fertility 84 303-312. (doi:10.1530/jrf.0.0840303)
13. Kaneko H, Noguchi J, Kikuchi K, Todoroki J & Hasegawa Y 2002 Alterations in peripheral concentrations of inhibin A in cattle studied using a time-resolved immunofluorometric assay: relationship with estradiol and follicle-stimulating hormone in various reproductive conditions. Biology of Reproduction 67 38-45. (doi:10.1095/biolreprod67.1.38)
14. Kawai Y, Takeno Y, Kobayashi E, Tachibana M, Wakafuji Y, Noguchi J & Kunieda T 2004 Linkage mapping of the locus responsible for male pseudohermaphroditism (mp) on rat chromosome 7. Experimental Animals 53 379-382. (doi:10.1538/expanim.53.379) (Pubitemid 41349906)
15. Kent J, Wheatley SC, Andrews JE, Sinclair AH & Koopman P 1996 A male-specific role for SOX9 in vertebrate sex determination. Development 122 2813-2822.
16. Koopman P, Gubbay J, Vivian N, Goodfellow P & Lovell-Badge R 1991 Male development of chromosomally female mice transgenic for Sry. Nature 351 117-121. (doi:10.1038/351117a0)
17. Martineau J, Nordqvist K, Tilmann C, Lovell-Badge R & Capel B 1997 Male-specific cell migration into the developing gonad. Current Biology 7 958-968. (doi:10.1016/S0960-9822(06)00415-5)
18. Mendis-Handagama SM & Ariyaratne HB 2001 Differentiation of the adult Leydig cell population in the postnatal testis. Biology of Reproduction 65 660-671. (doi:10.1095/biolreprod65.3.660)
19. Nachtigal MW, Hirokawa Y, Enyeart-VanHouten DL, Flanagan JM, Hammer GD & Ingraham HA 1998 Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression. Cell 93 445-454. (doi:10.1016/S0092-8674(00)81172-1)
20. Nef S & Parada LF 1999 Cryptorchidism in mice mutant for Insl3. Nature Genetics 22 295-299. (doi:10.1038/10364)
21. Park SY, Tong M & Jameson JL 2007 Distinct roles for steroidogenic factor 1 and Desert hedgehog pathways in fetal and adult Leydig cell development. Endocrinology 148 3704-3710. (doi:10.1210/en.2006-1731)
22. Pierucci-Alves F, Clark AM & Russell LD 2001 A developmental study of the Desert hedgehog-null mouse testis. Biology of Reproduction 65 1392-1402. (doi:10.1095/biolreprod65.5.1392)
23. Porter JA, Ekker SC, Park WJ, von Kessler DP, Young KE, Chen CH, Ma Y, Woods AS, Cotter RJ, Koonin EV et al. 1996a Hedgehog patterning activity: role of a lipophilic modification mediated by the carboxy-terminal autoprocessing domain. Cell 86 21-34. (doi:10.1016/S0092-8674(00)80074-4)
24. Porter JA, Young KE & Beachy PA 1996b Cholesterol modification of hedgehog signaling proteins in animal development. Science 274 255-259. (doi:10.1126/science.274.5285.255)
25. Ricci G, Catizone A, Innocenzi A & Galdieri M 1999 Hepatocyte growth factor (HGF) receptor expression and role of HGF during embryonic mouse testis development. Developmental Biology 216 340-347. (doi:10.1006/dbio.1999.9505)
26. Savage GN & Kerr JB 1995 Effect of seminiferous tubule size on hCG-induced regeneration of peritubular Leydig cells in hypophysectomized, EDS-treated rats. International Journal of Andrology 18 35-45. (doi:10.1111/j.1365-2605.1995.tb00932.x)
27. Sinclair AH, Berta PP, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, Foster JW, Frischauf AM, Lovell BR & Goodfellow PN 1990 A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346 240-244. (doi:10.1038/346240a0)
28. Tilmann C & Capel B 1999 Mesonephric cell migration induces testis cord formation and Sertoli cell differentiation in the mammalian gonad. Development 126 2883-2890. (Pubitemid 29355681)
29. Uzumcu M, Dirks KA & Skinner MK 2002 Inhibition of platelet-derived growth factor actions in the embryonic testis influences normal cord development and morphology. Biology of Reproduction 66 745-753. (doi:10.1095/biolreprod66. 3.745)
30. Yao HH & Capel B 2002 Disruption of testis cords by cyclopamine or forskolin reveals independent cellular pathways in testis organogenesis. Developmental Biology 246 356-365. (doi:10.1006/dbio.2002.0663)
31. Yao HH, Whorskey W & Capel B 2002 Desert hedgehog/patched 1 signaling specifies fetal Leydig cell fate in testis organogenesis. Genes and Development 16 1433-1440. (doi:10.1101/gad.981202)