The molecular basis of hypodactyly (Hd): A deletion in Hoxa13 leads to arrest of digital arch formation

Nature Genetics

Volumn 13, Issue 3, 1996, Pages 284-289

  Mortlock, Douglas P ^a   Post, Laura C ^a   Innis, Jeffrey W ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MESSENGER RNA; PROTEIN;

ALLELE; ANIMAL MODEL; ARTICLE; BASE PAIRING; EMBRYO; EXON; GENE; GENE DELETION; GENE MUTATION; GENE STRUCTURE; LIMB MALFORMATION; MORPHOGENESIS; MOUSE; NONHUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; EMBRYO; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HOMEODOMAIN PROTEINS; HOMOZYGOTE; LIMB DEFORMITIES, CONGENITAL; MICE; MICE, INBRED STRAINS; MOLECULAR SEQUENCE DATA; MULTIGENE FAMILY; MUTATION; SEQUENCE DELETION; TOES;

EID: 0030002141     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0796-284     Document Type: Article

References (52)

1. Laufer, E., Nelson, C.E., Johnson, R.L., Morgan, B.A. & Tabin, C. Sonic hedgehog and Fgf-4 act through a signaling cascade and feedback loop to integrate growth and patterning of the developing limb bud. Cell 79, 993-1003 (1994).
2. Tabin, C. The initiation of the limb bud: growth factors, Hox genes, and retinoids. Cell 80, 671-674 (1995).
3. Conn, M.J., Izpisúa-Belmonte, J.C., Abud, H., Heath, J.K. & Tickle, C. Fibroblast growth factors induce additional limb development from the flank of chick embryos. Cell 80, 739-746 (1995).
4. Duboule, D. The vertebrate limb: a model system to study the Hox/HOM gene network during development and evolution. BioEssays 14, 375-384 (1992).
5. Yokouchi, Y., Sasaki, H. & Kuroiwa, A. Homeobox gene expression correlated with the bifurcation process of limb cartilage development. Nature 353, 443-445 (1991).
6. Haack, H. & Gruss, P. The establishment of murine Hox-1 expression domains during patterning of the limb. Dev. Biol. 157, 410-422 (1993).
7. Small, K.M. & Potter, S.S. Homeotic transformations and limb defects in Hoxa11 mutant mice. Genes Dev. 7, 2318-2328 (1993).
8. Satokata, I., Benson, G. & Maas, R. Sexually dimorphic sterility phenotypes in Hoxa10-deficient mice. Nature 374, 460-463 (1995).
9. Rijli, F.M. et al. Cryptorchidism and homeotic transformations of spinal nerves and vertebrae in Hoxa-10 mutant mice. Proc. Natl. Acad. Sci. USA 92, 8185-8189 (1995).
10. Hsieh-Li, H.M. et al. Hoxa11 structure, extensive antisense transcription, and function in male and female fertility. Development 121, 1373-1385 (1995).
11. Dollé, P. et al. Disruption of the Hoxd-13 gene induces localized heterochrony leading to mice with neotenic limbs. Cell 75, 431-441 (1993).
12. Davis, A.P., White, D.P., Hsieh-Li, H.M., Potter, S.S. & Capecchi, M.R. Absence of radius and ulna in mice lacking hoxa-11 and hoxd-11. Nature 375, 791-795 (1995).
13. Davis, A.P. & Capecchi, M.R. Axial homeosis and appendicular skeleton defects in mice with a targeted disruption of hoxd-11. Development 120, 2187-2198 (1994).
14. Yokouchi, Y. et al. Misexpression of Hoxa-13 induces cartilage homeotic transformation and changes cell adhesiveness in chick limb buds. Genes Dev. 9, 2509-2522 (1995).
15. Morgan, B.A. & Tabin, C. Hox genes and growth: early and lates roles in limb bud morphogenesis. Development Suppl. 181-186 (1994).
16. Roberts, D.J. & Tabin, C. The genetics of human limb development. Am. J. Hum. Gen. 55, 1-6 (1994).
17. Redline, R.W., Neish, A., Holmes, L.B. & Collins, T. Biology of disease: homeobox genes and congenital malformations. Lab. Invest. 66, 659-670 (1992).
18. Krumlauf, R. Hox genes in vertebrate development. Cell 78, 191-201 (1994).
19. Muragaki, Y., Mundlos, S., Upton, J. & Olsen, B.R. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 272, 548-551 (1996).
20. Hummel, K. Hypodactyly, a semidominant lethal mutation in mice. J. Hered. 61, 219-220 (1970).
21. Innis, J.W., Kazen-Gillespie, K., Post, L.C. & McGorman, J.M. High-resolution genetic mapping of the hypodactyly (Hd) locus on mouse chromosome 6. Mamm. Genome 7, 2-5 (1996).
22. Innis, J.W. et al. Orientation of the Hoxa complex and placement of the Hd locus distal to Hoxa2 on mouse chromosome 6. Mamm. Genome 7, 216-217 (1996).
23. Gardiner, D.M., Blumberg, B., Komine, Y. & Bryant, S.V. Regulation of Hoxa expression in developing and regenerating axolotl limbs. Development 121, 1731-1741 (1995).
24. Rogina, B. & Upholt, W.B. Cloning of full coding chicken cDNAs for the homeobox-containing gene Hoxd-13. Nucl. Acids Res. 21, 1316 (1993).
25. van der Hoeven, F., Sordino, P., Fraudeau, N., Izpisùa-Belmonte, J.-C. & Duboule, D. Genbank #X87752, direct submission. (1995).
26. Kozak, M. Point mutations close to me AUG initiator codon affect the efficiency of translation of rat preproinsulin in vivo. Nature 308, 241-246 (1984).
27. Kozak, M. Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes. Cell 44, 283-293 (1986).
28. Duboule, D. Guidebook to the Homeobox Genes. (Oxford University Press, New York, 1994).
29. Han, K. & Manley, J.L. Transcriptional repression by the Drosophila Even-skipped protein: definition of a minimal repression domain. Genes Dev. 7, 492-503 (1993).
30. Han, K. & Manley, J.L. Functional domains of the Drosophila Engrailed protein. EMBO J. 12, 2723-2733 (1993).
31. Licht, J.D., Grossel, M.J., Figge, J. & Hansen, U.M. Drosophila Krüppel protein is a transcriptional repressor. Nature 346, 76-79 (1990).
32. Dover, G. Slippery DNA runs on and on and on... Nature Genet. 10, 254-256 (1995).
33. Kunkel, T.A. Slippery DNA and diseases. Nature 365, 207-208 (1993).
34. Shubin, N.H. & Alberch, P.A morphogenetic approach to the origin and basic organization of the tetrapod limb. Evol. Biol. 20, 319-387 (1986).
35. Oster, G.F., Murray, J.D. & Maini, P.K. A model for chondrogenic condensations in the developing limb: the role of extracellular matrix and cell tractions. J. Embryol. Exp. Morph. 89, 93-112 (1985).
36. Condie, B.G. & Capecchi, M.R. Mice with targeted disruptions in the paralogous genes hoxa-3 and hoxd-3 reveal synergistic interactions. Nature 370, 304-307 (1994).
37. Rancourt, D.E., Tsuzuki, T. & Capecchi, M.R. Genetic interaction between hoxb-5 and hoxb-6 is revealed by nonallelic noncomplementation. Genes Dev. 9, 108-122 (1995).
38. Favier B., Meur, M.L., Chambon, P. & Dollé, P. Axial skeleton homeosis and forelimb malformations in Hoxd-11 mutant mice. Proc. Natl. Acad. Sci. USA 92, 310-314 (1995).
39. Dollé, P., Izpisúa-Belmonte, J.-C., Boncinelli, E. & Duboule, D. The Hox-4.8 gene is localised at the 5′ extremity of the HOX-4 complex and is expressed in the most posterior parts of the body during development. Mech. Dev. 36, 3-14 (1991).
40. Yokouchi, Y., Sakiyama, J. & Kuroiwa, A. Coordinated expression of Abd-B subfamily genes of the Hoxa cluster in the developing digestive tract of chick embryo. Dev. Biol. 169, 76-89 (1995).
41. Copp, A.J. Death before birth: clues from gene knockouts and mutations. Trends Genet. 11, 87-93 (1995).
42. Bates, G. & Lehrach, H. Trinucleotide repeat expansions and human genetic disease. BioEssays 16, 277-284 (1994).
43. Lupski, J.R., Roth, J.R. & Weinstock, G.M. Chromosomal duplications in bacteria, fruit flies, and humans. Am. J. Hum. Gen. 58, 21-27 (1996).
44. Tautz, D. & Schlötterer, C. Simple Sequences. Curr. Opin. Gen. Dev. 4, 832-837 (1994).
45. Magli, M.C., Barba, P., Celetti, A., Vita, G.d. & Cillo, C. Coordinate regulation of HOX genes in human hematopoietic cells. Proc. Natl. Acad. Sci. USA 88, 6348-6352 (1991).
46. Redline, R.W., Hudock, P., MacFee, M. & Patterson, P. Expression of AbdB-type homeobox genes in human tumors. Lab. Invest. 71, 663-670 (1994).
47. Stern, A.M. et al. The hand-foot-uterus syndrome. J. Pediat. 77, 109-116 (1970).
48. Poznanski, A.K., Stern, A.S. & Gall, J.C. Radiographic findings in the hand-foot-uterus syndrome (HFUS). Radiology 95, 129-134 (1970).
49. Halal, F. The Hand-foot-genital (hand-foot-uterus) syndrome: family report and update. Am. J. Med. Gen. 30, 793-803 (1988).
50. Kimmel, C.A. & Trammell, C. A rapid procedure for routine double staining of cartilage and bone in fetal and adult animals. Stain Technol. 56, 271-273 (1981).
51. Ausubel, F.M. et al. Current protocols in molecular biology. (Greene Publishing Associates and Wiley-Interscience, 1991).
52. Valdes, J.M., Tagle, D., Elmer, L. & Collins, F. A simple non-radioactive method for diagnosis of Huntington's disease. Hum. Mol. Genet. 2, 633-634 (1993).