DOI: 10.1126/science.272.5261.548. Altered Growth and Branching Patterns in Synpolydactyly Caused by Mutations in HOXD13

Altered Growth and Branching Patterns in Synpolydactyly Caused by Mutations in HOXD13

10.1126/science.272.5261.548

Crossref journal-article

American Association for the Advancement of Science (AAAS)

Science (221)

Abstract

Hox genes regulate patterning during limb development. It is believed that they function in the determination of the timing and extent of local growth rates. Here, it is demonstrated that synpolydactyly, an inherited human abnormality of the hands and feet, is caused by expansions of a polyalanine stretch in the amino-terminal region of HOXD13. The homozygous phenotype includes the transformation of metacarpal and metatarsal bones to short carpal- and tarsal-like bones. The mutations identify the polyalanine stretch outside of the DNA binding domain of HOXD13 as a region necessary for proper protein function.

Bibliography

Muragaki, Y., Mundlos, S., Upton, J., & Olsen, B. R. (1996). Altered Growth and Branching Patterns in Synpolydactyly Caused by Mutations in HOXD13. Science, 272(5261), 548â551.

Authors 4

Yasuteru Muragaki (first)
Stefan Mundlos (additional)
Joseph Upton (additional)
Bjorn R. Olsen (additional)

References 26 Referenced 445

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Dates

Type	When
Created	18 years, 10 months ago (Oct. 27, 2006, 2:30 p.m.)
Deposited	1 year, 7 months ago (Jan. 12, 2024, 4:53 p.m.)
Indexed	1 month, 4 weeks ago (July 1, 2025, 7:12 p.m.)
Issued	29 years, 4 months ago (April 26, 1996)
Published	29 years, 4 months ago (April 26, 1996)
Published Print	29 years, 4 months ago (April 26, 1996)

Funders 0

None

BibTeX

@article{Muragaki_1996, title={Altered Growth and Branching Patterns in Synpolydactyly Caused by Mutations in HOXD13}, volume={272}, ISSN={1095-9203}, url={http://dx.doi.org/10.1126/science.272.5261.548}, DOI={10.1126/science.272.5261.548}, number={5261}, journal={Science}, publisher={American Association for the Advancement of Science (AAAS)}, author={Muragaki, Yasuteru and Mundlos, Stefan and Upton, Joseph and Olsen, Bjorn R.}, year={1996}, month=apr, pages={548–551} }

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