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PITX2 gain-of-function induced defects in mouse forelimb development.

Holmberg, Johan K LU ; Ingner, Gorel; Johansson, Curt R; Leander, Peter LU and Hjalt, Tord LU (2008) In BMC Developmental Biology 8.
Abstract
BACKGROUND: Limb development and patterning originate from a complex interplay between the skeletal elements, tendons, and muscles of the limb. One of the genes involved in patterning of limb muscles is the homeobox transcription factor Pitx2 but its role in forelimb development is uncharacterized. Pitx2 is expressed in the majority of premature presumptive forelimb musculature at embryonic day 12.5 and then maintained throughout embryogenesis to adult skeletal muscle. RESULTS: To further study the role of Pitx2 in forelimb development we have generated transgenic mice that exhibit a pulse of PITX2 over-expression at embryonic day 13.5 and 14.5 in the developing forelimb mesenchyme. These mice exhibit a distal misplacement of the biceps... (More)
BACKGROUND: Limb development and patterning originate from a complex interplay between the skeletal elements, tendons, and muscles of the limb. One of the genes involved in patterning of limb muscles is the homeobox transcription factor Pitx2 but its role in forelimb development is uncharacterized. Pitx2 is expressed in the majority of premature presumptive forelimb musculature at embryonic day 12.5 and then maintained throughout embryogenesis to adult skeletal muscle. RESULTS: To further study the role of Pitx2 in forelimb development we have generated transgenic mice that exhibit a pulse of PITX2 over-expression at embryonic day 13.5 and 14.5 in the developing forelimb mesenchyme. These mice exhibit a distal misplacement of the biceps brachii insertion during embryogenesis, which twists the forelimb musculature resulting in severe skeletal malformations. The skeletal malformations have some similarities to the forearm deformities present in Leri-Weill dyschondrosteosis. CONCLUSION: Taken together, the tendon, muscle, and bone anomalies further support a role of Pitx2 in forelimb development and may also shed light on the interaction between the skeletal elements and muscles of the limb during embryogenesis. (Less)
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author
organization
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type
Contribution to journal
publication status
published
subject
in
BMC Developmental Biology
volume
8
publisher
BioMed Central
external identifiers
  • PMID:18312615
  • WOS:000254282200001
  • Scopus:43149111060
ISSN
1471-213X
DOI
10.1186/1471-213X-8-25
language
English
LU publication?
yes
id
3e002902-cfba-4b7a-b3cd-62b7878eed35 (old id 1052888)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/18312615?dopt=Abstract
date added to LUP
2008-04-01 15:49:32
date last changed
2016-10-13 04:28:09
@misc{3e002902-cfba-4b7a-b3cd-62b7878eed35,
  abstract     = {BACKGROUND: Limb development and patterning originate from a complex interplay between the skeletal elements, tendons, and muscles of the limb. One of the genes involved in patterning of limb muscles is the homeobox transcription factor Pitx2 but its role in forelimb development is uncharacterized. Pitx2 is expressed in the majority of premature presumptive forelimb musculature at embryonic day 12.5 and then maintained throughout embryogenesis to adult skeletal muscle. RESULTS: To further study the role of Pitx2 in forelimb development we have generated transgenic mice that exhibit a pulse of PITX2 over-expression at embryonic day 13.5 and 14.5 in the developing forelimb mesenchyme. These mice exhibit a distal misplacement of the biceps brachii insertion during embryogenesis, which twists the forelimb musculature resulting in severe skeletal malformations. The skeletal malformations have some similarities to the forearm deformities present in Leri-Weill dyschondrosteosis. CONCLUSION: Taken together, the tendon, muscle, and bone anomalies further support a role of Pitx2 in forelimb development and may also shed light on the interaction between the skeletal elements and muscles of the limb during embryogenesis.},
  author       = {Holmberg, Johan K and Ingner, Gorel and Johansson, Curt R and Leander, Peter and Hjalt, Tord},
  issn         = {1471-213X},
  language     = {eng},
  publisher    = {ARRAY(0x89ea540)},
  series       = {BMC Developmental Biology},
  title        = {PITX2 gain-of-function induced defects in mouse forelimb development.},
  url          = {http://dx.doi.org/10.1186/1471-213X-8-25},
  volume       = {8},
  year         = {2008},
}