Serrate2 is disrupted in the mouse limb-development mutant syndactylism

Nature ◽  
10.1038/39587 ◽  
1997 ◽  
Vol 389 (6652) ◽  
pp. 722-725 ◽  
Author(s):  
Arend Sidow ◽  
Monique S. Bulotsky ◽  
Anne W. Kerrebrock ◽  
Roderick T. Bronson ◽  
Mark J. Daly ◽  
...  
Keyword(s):  
Limb Development ◽  
Mouse Limb

Products, genetic linkage and limb patterning activity of a murine hedgehog gene

Development ◽  
1994 ◽  
Vol 120 (11) ◽  
pp. 3339-3353 ◽  
Author(s):  
D.T. Chang ◽  
A. Lopez ◽  
D.P. von Kessler ◽  
C. Chiang ◽  
B.K. Simandl ◽  
...  
Keyword(s):  
Limb Development ◽  
Genetic Linkage ◽  
Pcr Primers ◽  
Amino Acid Identity ◽  
Protein Product ◽  
Proteolytic Processing ◽  
Limb Bud ◽  
Gene Encoding ◽  
Mouse Limb ◽  
Drosophila Embryos

The hedgehog (hh) segmentation gene of Drosophila melanogaster encodes a secreted signaling protein that functions in the patterning of larval and adult structures. Using low stringency hybridization and degenerate PCR primers, we have isolated complete or partial hh-like sequences from a range of invertebrate species including other insects, leech and sea urchin. We have also isolated three mouse and two human DNA fragments encoding distinct hh-like sequences. Our studies have focused upon Hhg-1, a mouse gene encoding a protein with 46% amino acid identity to hh. The Hhg-1 gene, which corresponds to the previously described vhh-1 or sonic class, is expressed in the notochord, ventral neural tube, lung bud, hindgut and posterior margin of the limb bud in developing mouse embryos. By segregation analysis the Hhg-1 gene has been localized to a region in proximal chromosome 5, where two mutations affecting mouse limb development previously have been mapped. In Drosophila embryos, ubiquitous expression of the Hhg-1 gene yields effects upon gene expression and cuticle pattern similar to those observed for the Drosophila hh gene. We also find that cultured quail cells transfected with a Hhg-1 expression construct can induce digit duplications when grafted to anterior or mid-distal but not posterior borders within the developing chick limb; more proximal limb element duplications are induced exclusively by mid-distal grafts. Both in transgenic Drosophila embryos and in transfected quail cells, the Hhg-1 protein product is cleaved to yield two stable fragments from a single larger precursor. The significance of Hhg-1 genetic linkage, patterning activity and proteolytic processing in Drosophila and chick embryos is discussed.

scholarly journals Sim1 and Sim2 expression during chick and mouse limb development

2009 ◽  
Vol 53 (1) ◽  
pp. 149-157 ◽  
Author(s):  
Pascal Coumailleau ◽  
Delphine Duprez
Keyword(s):  
Limb Development ◽  
Mouse Limb

WITHDRAWN: A screen for recessive mutations affecting mouse limb development

2007 ◽  
Author(s):  
Kathryn V. Anderson ◽  
Lee A. Niswander ◽  
Scott D. Weatherbee
Keyword(s):  
Limb Development ◽  
Recessive Mutations ◽  
Mouse Limb

scholarly journals Twist Plays an Essential Role in FGF and SHH Signal Transduction during Mouse Limb Development

2002 ◽  
Vol 248 (1) ◽  
pp. 143-156 ◽  
Author(s):  
Meredith P. O'Rourke ◽  
Kenneth Soo ◽  
Richard R. Behringer ◽  
Chi-Chung Hui ◽  
Patrick P.L. Tam
Keyword(s):  
Signal Transduction ◽  
Limb Development ◽  
Essential Role ◽  
Mouse Limb

scholarly journals Evidence for genetic control of Sonic hedgehog by Gli3 in mouse limb development

1997 ◽  
Vol 62 (2) ◽  
pp. 175-182 ◽  
Author(s):  
Dirk Büscher ◽  
Birgit Bosse ◽  
Joachim Heymer ◽  
Ulrich Rüther
Keyword(s):  
Genetic Control ◽  
Sonic Hedgehog ◽  
Limb Development ◽  
Mouse Limb

scholarly journals Loss of U11 small nuclear RNA in the developing mouse limb results in micromelia

Development ◽  
2020 ◽  
Vol 147 (21) ◽  
pp. dev190967
Author(s):  
Kyle D. Drake ◽  
Christopher Lemoine ◽  
Gabriela S. Aquino ◽  
Anna M. Vaeth ◽  
Rahul N. Kanadia
Keyword(s):  
Cell Cycle ◽  
Limb Development ◽  
Intron Retention ◽  
Size Control ◽  
Small Nuclear Rna ◽  
Essential Components ◽  
Primordial Dwarfism ◽  
Nuclear Rna ◽  
Mouse Limb

ABSTRACTDisruption of the minor spliceosome due to mutations in RNU4ATAC is linked to primordial dwarfism in microcephalic osteodysplastic primordial dwarfism type 1, Roifman syndrome, and Lowry-Wood syndrome. Similarly, primordial dwarfism in domesticated animals is linked to positive selection in minor spliceosome components. Despite being vital for limb development and size regulation, its role remains unexplored. Here, we disrupt minor spliceosome function in the developing mouse limb by ablating one of its essential components, U11 small nuclear RNA, which resulted in micromelia. Notably, earlier loss of U11 corresponded to increased severity. We find that limb size is reduced owing to elevated minor intron retention in minor intron-containing genes that regulate cell cycle. As a result, limb progenitor cells experience delayed prometaphase-to-metaphase transition and prolonged S-phase. Moreover, we observed death of rapidly dividing, distally located progenitors. Despite cell cycle defects and cell death, the spatial expression of key limb patterning genes was maintained. Overall, we show that the minor spliceosome is required for limb development via size control potentially shared in disease and domestication.

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