Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13.

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المؤلفون: Muragaki Y;Muragaki Y; Mundlos S; Upton J; Olsen BR
المصدر:
Science (New York, N.Y.) [Science] 1996 Apr 26; Vol. 272 (5261), pp. 548-51.
نوع النشر :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
اللغة:
English

معلومة اضافية
- المصدر:
  Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print Cited Medium: Print ISSN: 0036-8075 (Print) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE
- بيانات النشر:
  Publication: : Washington, DC : American Association for the Advancement of Science
  Original Publication: New York, N.Y. : [s.n.] 1880-
- الموضوع:
  Genes, Homeobox* ; Transcription Factors*; Fingers/*abnormalities ; Homeodomain Proteins/*genetics ; Polydactyly/*genetics ; Syndactyly/*genetics ; Toes/*abnormalities; Amino Acid Sequence ; Base Sequence ; Chromosome Mapping ; Chromosomes, Human, Pair 2 ; Cloning, Molecular ; Female ; Fingers/embryology ; Genetic Linkage ; Homeodomain Proteins/chemistry ; Homeodomain Proteins/physiology ; Humans ; Male ; Molecular Sequence Data ; Morphogenesis ; Multigene Family ; Mutation ; Pedigree ; Peptides/chemistry ; Polydactyly/diagnostic imaging ; Polydactyly/embryology ; Polymerase Chain Reaction ; Radiography ; Syndactyly/diagnostic imaging ; Syndactyly/embryology ; Toes/embryology
- نبذة مختصرة :
  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.
- Comments:
  Comment in: Science. 1997 Jan 17;275(5298):408-9. doi: 10.1126/science.275.5298.408. (PMID: 9005557)
- Grant Information:
  AR36819 United States AR NIAMS NIH HHS; AR36820 United States AR NIAMS NIH HHS
- Molecular Sequence:
  GENBANK AF005219; AF005220
- الرقم المعرف:
  0 (HOXD13 protein, human)
  0 (Homeodomain Proteins)
  0 (Peptides)
  0 (Transcription Factors)
  25191-17-7 (polyalanine)
- الموضوع:
  Date Created: 19960426 Date Completed: 19960605 Latest Revision: 20190618
- الموضوع:
  20250114
- الرقم المعرف:
  10.1126/science.272.5261.548
- الرقم المعرف:
  8614804

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Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13.

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