Patched 1 is a crucial determinant of asymmetry and digit number in the vertebrate limb

Development ◽  
2009 ◽  
Vol 136 (20) ◽  
pp. 3515-3524 ◽  
Author(s):  
N. C. Butterfield ◽  
V. Metzis ◽  
E. McGlinn ◽  
S. J. Bruce ◽  
B. J. Wainwright ◽  
...  
Keyword(s):  
Digit Number ◽  
Vertebrate Limb ◽  
Patched 1

scholarly journals Establishing the pattern of the vertebrate limb

Development ◽  
2020 ◽  
Vol 147 (17) ◽  
pp. dev177956 ◽  
Author(s):  
Caitlin McQueen ◽  
Matthew Towers
Keyword(s):  
Gene Expression ◽  
Pattern Formation ◽  
Limb Bud ◽  
Complex Pattern ◽  
Digit Number ◽  
Vertebrate Limb ◽  
Undifferentiated Cells

ABSTRACTThe vertebrate limb continues to serve as an influential model of growth, morphogenesis and pattern formation. With this Review, we aim to give an up-to-date picture of how a population of undifferentiated cells develops into the complex pattern of the limb. Focussing largely on mouse and chick studies, we concentrate on the positioning of the limbs, the formation of the limb bud, the establishment of the principal limb axes, the specification of pattern, the integration of pattern formation with growth and the determination of digit number. We also discuss the important, but little understood, topic of how gene expression is interpreted into morphology.

scholarly journals Reciprocal Mouse and Human Limb Phenotypes Caused by Gain- and Loss-of-Function Mutations Affecting Lmbr1

Genetics ◽  
2001 ◽  
Vol 159 (2) ◽  
pp. 715-726
Author(s):  
Richard M Clark ◽  
Paul C Marker ◽  
Erich Roessler ◽  
Amalia Dutra ◽  
John C Schimenti ◽  
...  
Keyword(s):  
Limb Development ◽  
Chromosomal Region ◽  
Loss Of Function ◽  
Digit Number ◽  
Limb Defects ◽  
Major Locus ◽  
Preaxial Polydactyly ◽  
Vertebrate Limb ◽  
In Trans ◽  
Human Limb

Abstract The major locus for dominant preaxial polydactyly in humans has been mapped to 7q36. In mice the dominant Hemimelic extra toes (Hx) and Hammertoe (Hm) mutations map to a homologous chromosomal region and cause similar limb defects. The Lmbr1 gene is entirely within the small critical intervals recently defined for both the mouse and human mutations and is misexpressed at the exact time that the mouse Hx phenotype becomes apparent during limb development. This result suggests that Lmbr1 may underlie preaxial polydactyly in both mice and humans. We have used deletion chromosomes to demonstrate that the dominant mouse and human limb defects arise from gain-of-function mutations and not from haploinsufficiency. Furthermore, we created a loss-of-function mutation in the mouse Lmbr1 gene that causes digit number reduction (oligodactyly) on its own and in trans to a deletion chromosome. The loss of digits that we observed in mice with reduced Lmbr1 activity is in contrast to the gain of digits observed in Hx mice and human polydactyly patients. Our results suggest that the Lmbr1 gene is required for limb formation and that reciprocal changes in levels of Lmbr1 activity can lead to either increases or decreases in the number of digits in the vertebrate limb.

scholarly journals A Novel Signaling Pathway Mediated by the Nuclear Targeting of C-Terminal Fragments of Mammalian Patched 1

PLoS ONE ◽  
2011 ◽  
Vol 6 (4) ◽  
pp. e18638 ◽  
Author(s):  
Hiroki Kagawa ◽  
Yuka Shino ◽  
Daigo Kobayashi ◽  
Syunsuke Demizu ◽  
Masumi Shimada ◽  
...  
Keyword(s):  
Signaling Pathway ◽  
Nuclear Targeting ◽  
Patched 1

scholarly journals Coordinate Roles for LIM Homeobox Genes in Directing the Dorsoventral Trajectory of Motor Axons in the Vertebrate Limb

Cell ◽  
2000 ◽  
Vol 102 (2) ◽  
pp. 161-173 ◽  
Author(s):  
Artur Kania ◽  
Randy L Johnson ◽  
Thomas M Jessell
Keyword(s):  
Homeobox Genes ◽  
Motor Axons ◽  
Vertebrate Limb
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