Severe limb defects in Hypodactyly mice result from the expression of a novel, mutant HOXA13 protein

Developmental Biology

Volumn 217, Issue 2, 2000, Pages 290-300

  Post, Laura C ^a   Margulies, Elliott H ^a   Kuo, Anne ^a   Innis, Jeffrey W ^a,b  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

Author keywords

Frame shift mutation.; Hoxa13; Hypodactyly; Limb development; Transgenic mice

Indexed keywords

CELL PROTEIN; HD PROTEIN; MESSENGER RNA; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CONTROLLED STUDY; FINGER MALFORMATION; GENE DELETION; HYPODACTYLY; LIMB DEFECT; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN ISOLATION; PROTEIN LOCALIZATION;

ANIMALIA; MAMMALIA; MUS MUSCULUS;

EID: 0034650211     PISSN: 00121606     EISSN: None     Source Type: Journal    
DOI: 10.1006/dbio.1999.9550     Document Type: Article

References (29)

1. Andersson S., Davis D. N., Dahlback H., Jornvall H., Russell D. W. Cloning, structure, and expression of the mitochondrial cytochrome P-450 sterol 26-hydroxylase, a bile acid biosynthetic enzyme. J. Biol. Chem. 264:1989;8222-8229.
2. Ausubel F. M., Brent R., Kingston R. E., Moore D. D., Seidman J. G., Smith J. A., Struhl K. Current Protocols in Molecular Biology. 1991;Greene and Wiley-Interscience, New York.
3. Bushdid P. B., Brantley D. M., Yull F. E., Blaeuer G. L., Hoffman L. H., Niswander L., Kerr L. D. Inhibition of NF-κB activity results in disruption of the apical ectodermal ridge and aberrant limb morphogenesis. Nature. 392:1998;615-618.
4. Copeland J. W. R., Nasiadka A., Dietrich B. H., Krause H. M. Patterning of the Drosophila embryo by a homeodomain-deleted Ftz polypeptide. Nature. 379:1996;162-165.
5. Cserjesi P., Brown D., Ligon K. L., Lyons G. E., Copeland N. G., Gilbert D. J., Jenkins N. A., Olson E. N. Scleraxis: A basic helix-loop-helix protein that prefigures skeletal formation during mouse embryogenesis. Development. 121:1995;1099-1110.
6. Fromental-Ramain C., Warot X., Messadecq N., LeMeur M., Dolle P., Chambon P. Hoxa-13 and Hoxd-13 play a crucial role in the patterning of the limb autopod. Development. 122:1996;2997-3011.
7. Haramis A. G., Brown J. M., Zeller R. The limb deformity mutation disrupts the SHH/FGF-4 feedback loop and regulation of 5′ HoxD genes during limb pattern formation. Development. 121:1995;4237-4245.
8. Harlow E., Lane D. Antibodies: A Laboratory Manual. 1988;Cold Spring Harbor Laboratory Press, Cold Spring Harbor.
9. Hummel K. P. Hypodactyly, a semidominant lethal mutation in mice. J. Hered. 61:1970;219-220.
10. Hyduk D., Percival-Smith A. Genetic characterization of the homeodomain-independent activity of the Drosophila fushi tarazu gene product. Genetics. 142:1996;481-492.
11. Jans D. A., Hubner S. Regulation of protein transport to the nucleus: Central role of phosphorylation. Physiol. Rev. 76:1996;651-685.
12. Kanegae Y., Tavares A. T., Belmonte J. C. I., Verma I. M. Role of Rel/NF-κB transcription factors during the outgrowth of the vertebrate limb. Nature. 392:1998;611-614.
13. Kern M. J., Argao E. A., Birkenmeier E. H., Rowe L. B., Potter S. S. Genomic organization and chromosome localization of the murine homeobox gene Pmx. Genomics. 19:1994;334-340.
14. Kozak M. Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes. Cell. 44:1986;283-293.
15. Kuhlman J., Niswander L. Limb deformity proteins: Role in mesodermal induction of the apical ectodermal ridge. Development. 124:1997;133-139.
16. 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. Cell. 79:1994;993-1003.
17. Li X., Murre C., McGinnis W. Activity regulation of a Hox protein and a role for the homeodomain in inhibiting transcriptional activation. EMBO J. 18:1999;198-211.
18. Lu M.-F., Cheng H.-T., Kern M. J., Potter S. S., Tran B., Diekwisch T. G. H. Prx-1 functions cooperatively with another paired-related homeobox gene, Prx-2, to maintain cell fates within the craniofacial mesenchyme. Development. 126:1999;495-504.
19. Mills A. A., Zheng B., Wang X.-J., Vogel H., Roop D. R., Bradley A. p63 is a p53 homologue required for limb and epidermal morphogenesis. Nature. 398:1999;708-713.
20. Mortlock D. P., Post L. C., Innis J. W. The molecular basis of Hypodactyly (Hd): A deletion in Hoxa13 leads to arrest of digital arch formation. Nat. Genet. 13:1996;284-289.
21. Mortlock D. P., Sateesh P., Innis J. W. Evolution of N-terminal sequences of the vertebrate HOXA13 protein. Mamm. Genome. 2000.
22. Niswander L., Jeffrey S., Martin G. R., Tickle C. A positive feedback loop coordinates growth and patterning in the vertebrate limb. Nature. 371:1994;609-612.
23. Palmeri D., Malim M. H. Importin β can mediate the nuclear import of an arginine-rich nuclear localization signal in the absence of importin α Mol. Cell. Biol. 19:1999;1218-1225.
24. Post L. C., Innis J. W. Altered Hox expression and increased cell death distinguish Hypodactyly from Hoxa13 null mice. Int. J. Dev. Biol. 43:1999;287-294.
25. Robertson K. E., Tickle C., Darling S. M. Shh, Fgf4 and Hoxd gene expression in the mouse limb mutant hypodactyly. Int. J. Dev. Biol. 41:1997;733-736.
26. Vershon A. K., Jin Y., Johnson A. D. A homeo domain protein lacking specific side chains of helix 3 can still bind DNA and direct transcriptional repression. Genes Dev. 9:1995;182-192.
27. Yang A., Schweitzer R., Sun D., Kaghad M., Walker N., Bronson R. T., Tabin C., Sharpe A., Caput D., Crum C., McKeon F. p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development. Nature. 398:1999;714-718.
28. Yokouchi Y., Nakazato S., Yamamoto M., Goto Y., Kameda T., Iba H., Kuroiwa A. Misexpression of Hoxa-13 induces cartilage homeotic transformation and changes cell adhesiveness in chick limb buds. Genes Dev. 9:1995;2509-2522.
29. Zappavigna V., Sartori D., Mavilio F. Specificity of HOX protein function depends on DNA-protein and protein-protein interactions, both mediated by the homeo domain. Genes Dev. 8:1994;732-744.