Gene dosage-dependent effects of the Hoxa-13 and Hoxd-13 mutations on morphogenesis of the terminal parts of the digestive and urogenital tracts

Development

Volumn 124, Issue 23, 1997, Pages 4781-4791

  Warot, Xavier ^a   Fromental Ramain, Catherine ^a   Fraulob, Valérie ^a   Chambon, Pierre ^a   Dollé, Pascal ^a  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

Gene targeting; Genitalia; Hindgut; Homeobox; Mouse development

Indexed keywords

ACCESSORY SEX GLAND; AGENESIS; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTERY OCCLUSION; ARTICLE; BLADDER; CONTROLLED STUDY; DEVELOPMENTAL GENETICS; DIGESTIVE SYSTEM; EMBRYO; EMBRYO DEVELOPMENT; FEMALE; GENE DOSAGE; GENE MUTATION; HOMEOBOX; HYDRONEPHROSIS; LETHAL MUTANT; MORPHOGENESIS; MOUSE; MOUSE MUTANT; MUELLERIAN DUCT; NONHUMAN; PRIORITY JOURNAL; RECTUM; UMBILICAL ARTERY; UROGENITAL SINUS; UROGENITAL SYSTEM; VAGINA;

ANIMALS; DIGESTIVE SYSTEM; DIGESTIVE SYSTEM ABNORMALITIES; FEMALE; GENE DOSAGE; GENITALIA, FEMALE; GENITALIA, MALE; HOMEODOMAIN PROTEINS; HOMOZYGOTE; MALE; MICE; MICE, MUTANT STRAINS; MUTATION; RECTUM; TRANSCRIPTION FACTORS; URINARY TRACT; UROGENITAL ABNORMALITIES; UROGENITAL SYSTEM;

ANIMALIA; MURINAE; RODENTIA; VERTEBRATA;

EID: 0031466723     PISSN: 09501991     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (56)

1. Benson, G. V., Lim, H., Paria, B. C., Satokata I., Dey, S. K. and Maas R. L. (1996). Mechanisms of reduced fertility in Hoxa-10 mutant mice: uterine homeosis and loss of maternal Hoxa-10 expression. development 122, 2687-2696.
2. Chen, Z., Friedrich, G. A. and Soriano, P. (1994). Transcriptional enhancer factor 1 disruption by a retroviral gene trap leads to heart defects and embryonic lethality in mice. Genes Dev. 8, 2293-2301.
3. Chisaka, O. and Capecchi. M. R. (1991). Regionally restricted developmental detects resulting from targeted disruption of the mouse homeobox gene Hox-1. 5. Nature 350, 473-479.
4. Davis, A. P. and Capecchi, M. R. (1996), A mutational analysis of the 5′ HoxD genes: dissection of genetic interactions during limb development in the mouse. Development 122, 1175-1185.
5. Davis, A. P., Witte, D. P., Hsieh-Li, H. M., Potter, S. S. and Capecchi, M. R. (1995) Absence of radius and ulna in mice lacking Hoxa-11 and Hoxd-11. Nature 375, 791-795.
6. Décimo, D., Georges-Labouesse, E., Dollé, P. (1995) In situ hybridization of nucleic acid probes to cellular RNA. In Gene Probes 2. a practical approach. (ed. B. D. Hames. S. J. Higgins). pp. 183-210. Oxford: Oxford University Press.
7. Dollé, P. and Duboule, D. (1993). Structural and functional aspects of mammalian Hox genes. Adv. Dev. Biochem. 2, 55-106
8. Dollé, P., Izpisùa-Belmonte, J. C., Brown, J., Tickle, C. and Duboule, D. (1991a). Hox-4 genes and the morphogenesis of mammalian genitalia. Genes Dev. 5. 1767-1776.
9. Dollé, P., Izpisùa-Belmonte. J., Boncinelli, K. and Duboule, D. (1991b). The Hox-4. 8 gene is localized at the 57prime; extremity of the Hox-4 complex and is expressed in the posterior end of the body during development. Mech. Dev. 36, 3-14.
10. Dollé, P., Dierich, A., Le Meur, M., Schimmang, T., Schuhbaur, B., Chambon, P. and Duboule, D. (1993). Disruption of the Hoxd-13 gene induces localized heterochrony leading to mice with neotenic limbs. Cell 75, 431-441
11. Donnenfeld, A. E., Schrager, D. S. and Corson, S. L. (1992) Update on a family with hand-foot-genital syndrome: hypospadias and urinary tract abnormalities in two boys from the fourth generation. Am. J. Med. Genet. 44, 482-484.
12. Duboule, D. (Ed.) (1994). Guidebook to the Homeobox Genes. Oxford: Oxford University Press.
13. Fromental-Ramain, C., Warot, X., Messaddeq, N., LeMeur, M., Dollé, P. and Chambon, P. (1996). Hoxd-13 and Hoxd-13 play a crucial role in the patterning of the limb autopod. Development 122, 2997-3011.
14. Fryns, J. P., Vogels, A., Decock, P. and Van den Berghe, H. (1993). The hand-foot-genital syndrome: on the variable expression in affected males. Clin. Genet. 43, 232-234.
15. Gendron, R. L., Paradis, H., Hsieh-Li, H. M., Lee, D. W., Potter, S. S. and Markoff, E. (1997). Abnormal uterine stromal and glandular function associated with maternal reproductive defects in Hoxa-11 null mice. Biol. Reprod. 56, 1097-1105.
16. Giedion, A. and Prader, A. (1975). Hand-Foot-Uterus (HFU) Syndrome with Hypospadias: The Hand-Foot-Genital (HFG) Syndrome. Pediat. Radiol. 4, 96-102.
17. Goff, D. J. and Tabin, C. J. (1997). Analysis of Hoxd-13 and Hoxd-11 misexpression in chick limb buds reveals that Hox genes affect both bone condensation and growth. Development 124, 627-636.
18. Gurtner, G. C., Davis, V., Li, H., McCoy, M. J., Sharpe, A. and Cybulsky, M. I. (1995). Targeted disruption of the murine VCAM1 gene: essential role of VCAM-1 in chorioallantoic fusion and placentation. Genes Dev. 9, 1-14.
19. Haack, H. and Gruss, P. (1993). The establishment of murine Hox-1 expression domains during patterning of the limb. Dev. Biol. 157, 410-422
20. Halal, F. (1986). A new syndrome of severe upper limb hypoplasia and Mullerian duel anomalies. Am. J. Med. Genet. 24, 119-126.
21. Halal, F. (1988). The Hand-Foot-Genital (Hand-Foot-Uterus) Syndrome: Family report and update. Am. J. Med. Genet. 30, 793-803.
22. Hsieh-Li, H. M., Witte, D. P., Weinstein, M., Branford, W., Li, H., Small, K. and Potter, S. S. (1995). Hoxa-11 structure, extensive antisense transcription. and function in male and female fertility. Development 121, 1373-1385.
23. Juillard, M. T. (1972). Ultrastructure de l'épithéliuin vaginal de la souris au cours de sa différenciation. Arch. Anat. Microsc. Morphol. Exp. 61, 33-46.
24. Kastner, P., Grondona, J. M., Mark, M., Gansmuller, A., LeMeur, M., Décimo, D., Vonesch, J. L., Dollé, P. and Chambon, P. (1994) Genetic analysis of RXRα developmental function: convergence of RXR and RAR signalling pathways in heart and eye morphogenesis. Cell 78, 987-1003.
25. Kaufman, M. H. (1992). The Atlas of Mouse Development. London: Academic-Press.
26. Kawabe, T., Muslin, A. J. and Korsmeyer, S. J. (1997) HOX11 interacts with protein phosphatases PP2A and PP1 and disrupts a G2/M cell-cycle checkpoint. Nature 385, 454-458.
27. Koff, A. K. (1933). Development of the vagina in the human fetus. Carnegie Inst Washington. Contrib. Embryol. 24, 59-90.
28. Kondo, T., Dollé, P., Zàkàny, J. and Duboule, D. (1996) Function of posterior HoxD genes in the morphogenesis of the anal sphincter. Development 122, 2651-2659.
29. Kwee, L., Baldwin, H. S., Shen, H. M., Stewart, C. L., Buck, C., Buck, C. A. and Labow, M. A. (1995). Detective development of the embryonic and extraembryonic circulatory systems in vascular cell adhesion molecule (VCAM-1) déficient mice. Development 121, 489-503.
30. Larsen, W. J. (1993). Human Embryology. Churchill Livingstone Inc.
31. Mark, M., Lufkin, T., Vonesch, J. L., Ruberte, E., Olivo, J.-C., Dollé, P., Gorry, P., Lumdsen, A. and Chambon, P. (1993) Two rhombomeres are altered in Hoxa-1 null mutant mice. Development 119, 319-338.
32. McGinnis, W. and Krumlauf, R. (1992). Homeobox genes and axial patterning. Cell 68, 283-302.
33. Mortlock, D. P. and Innis, J. W. (1997). Mutation of HOXA13 in hand-foot-genital syndrome. Nature Genet. 15, 179-180.
34. Muragaki, Y., Mundlos, S., Upton, J. and Olsen, B. R. (1996). Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 272, 548-551.
35. Oefelstein, M., Chin-Chance, C. and Bushman, W. (1996) Expression of the homeotic gene Hoxd-13 in the developing and adult mouse prostate. J. Urol. 155, 342-346.
36. Peterson, R. L., Papenbrock, T., Davda, M. M. and Awgulevitsch, A. (1994) The murine HOXC cluster contains five neighboring AbdB-related Hox genes that show unique spatially coordinated expression in posterior embryonic subregions. Mech. Dev. 47, 253-260.
37. Pinsky, L. A. (1973). A community of human malformation syndromes involving the Müllerian ducts, distal extremities, urinary tract, and ears. Teratol. 9, 65-80.
38. Podlasek, C. A., Duboule, D. and Bushman, W. (1997). Male accessory sex organ morphogenesis is altered by loss of function of Hoxd-13. dev. Dyn. 208, 454-465.
39. Rijli, M. R., Mark, M., Lakkaraju, S., Dierich, A., Dollé, P. and Chambon, P. (1993). A homeotic transformation is generated in the rostral branchial region of the head by disruption of Hoxa-2, which acts as a selector gene. Cell 75, 1333-1349.
40. Roberts, D. J., Johnson, R. L., Burke, A. C., Nelson, C. E., Morgan, B. A. and Tabin, C. (1995). Sonic hedgehog is an endodermal signal inducing Bmp-4 and Hox genes during induction and regionalization of the chick hindgut. Development 121, 3163-3174.
41. Romer, A. S. and Parsons, T. S. (1986). The Vertebrate Body. New York: Saunders HBJ.
42. Satokata, I., Benson, G. and Maas, R. (1995). Sexually dimorphic sterility phenotypes in Hoxa-10 deficient mice. Nature 374, 460-463.
43. Scott, M. (1992). Vertebrate homeobox gene nomenclature. Cell. 71, 551-553.
44. Sordino, P., van der Hoeven, K. and Duboule, D. (1995). Hox gene expression in teleost fins and the origin of vertebrate digits. Nature 375, 678-681.
45. Sordino, P. and Duboule, D. (1996). A molecular approach to the evolution of vertebrate paired appendages. Trends Ecol. Evol. 11, 114-119.
46. Sordino, P., Duboule, D. and Kondo, T. (1996) Zebrafish Hoxa and Evx-2 genes: cloning, developmental expression and implications for the functional evolution of posterior Hox genes. Mech. Dev. 59, 165-175.
47. Stern, A. M., Gall, J. C., Perry, B. L., Stimson, C. W., Weintkamp, L. R. and Poznanski, A. K. (1970). The hand-foot-uterus syndrome. J. Pediatrics 77, 109-116.
48. Thiedeman, K.-U. (1987). Fetal development of male and female genital tract, mouse. In Monographies of pathology of laboratory animals: The genital system. (ed. T. C. Jones. U. Mohr. R. D. Hunt) pp. 55-69. Berlin. Heidelberg: Springer Verlag.
49. van der Hoeven, F., Sordino, P., Fraudeau, N., Izpisùa-Belmonte, J. C. and Duboule, D. (1996). Teleost HoxD and HoxA genes: comparison with tetrapods and functional evolution of the HOXD complex. Mech. Dev. 54, 9-21.
50. Verp, M. S. (1989). Urinary tract abnormalities in Hand-Foot-Genital syndrome. Am. J. Med. Genetics 32, 555.
51. Walker, W. K. (1987). Functional Anatomy of the Vertebrates. An Evolutionary Perspective. Saunders College Publishing. Philadelphia.
52. Witschi, E. (1970). Development and differentiation of the uterus. In Prenatal Life. (ed. H. C. Mack) pp. 11-35. Detroit: Wayne State university Press.
53. Yokouchi, Y., Sakiyama, J. and Kuroiwa, A. (1995a) Coordinated expression of Abd-B subfamily genes of the HoxA cluster in the developing digestive tract of chick embryo. Dev. Biol. 169, 76-89.
54. Yokouchi, Y., Nakazato, S., Yamamoto, M., Goto, Y., Kameda, T., Iba, H. and Kuroiwa, A. (1995b). Misexpression of Hoxa-13 induces cartilage homeotic transformation and changes cell adhesiveness in chick limb buds. Genes Dev. 9, 2509-2522.
55. Zàkàny, J. and Duboule, D. (1996). Synpolydactyly in mice with a targeted deficiency in the HoxD complex. Nature 384, 69-71.
56. Zeltser, L., Desplan, C. and Heintz, N. (1996) Hoxb-13: a new Hox gene in a distant region of the HOXB cluster maintains colinearity Development 122, 2475-2484.