XB-FEAT-981845: Difference between revisions
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=lmbr1= | =''lmbr1''= | ||
This is the community wiki page for the gene ''lmbr1'' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase | This is the community wiki page for the gene ''lmbr1'' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase. | ||
=ZRS - ZPA regulatory sequence, aka MFCS1= | |||
This locus represents a highly conserved functional element that is located in an intron of the limb development membrane protein 1 (LMBR1) gene [in human and mouse]. In the developing limb bud, this element functions as a long-range enhancer of the sonic hedgehog signaling molecule (SHH) gene, which is located approximately 1 Mb downstream. Mutations in this element disrupt limb patterning and can result in a range of congenital limb malformations, including preaxial polydactyly, triphalangeal thumbs, Werner mesomelic syndrome (WMS), polysyndactyly, or Laurin-Sandrow syndrome. [provided by RefSeq, Feb 2019] | |||
Tada et al 2023 (The shh limb enhancer is activated in patterned limb regeneration but not in hypomorphic limb regeneration in Xenopus laevis) [https://doi.org/10.1016/j.ydbio.2023.05.009] show that "MFCS1, is activated in limb regeneration of Xenopus", and that "MFCS1 activity correlates with regeneration capacity of a well-patterned limb." | |||
Latest revision as of 06:27, 14 May 2024
lmbr1
This is the community wiki page for the gene lmbr1 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.
ZRS - ZPA regulatory sequence, aka MFCS1
This locus represents a highly conserved functional element that is located in an intron of the limb development membrane protein 1 (LMBR1) gene [in human and mouse]. In the developing limb bud, this element functions as a long-range enhancer of the sonic hedgehog signaling molecule (SHH) gene, which is located approximately 1 Mb downstream. Mutations in this element disrupt limb patterning and can result in a range of congenital limb malformations, including preaxial polydactyly, triphalangeal thumbs, Werner mesomelic syndrome (WMS), polysyndactyly, or Laurin-Sandrow syndrome. [provided by RefSeq, Feb 2019]
Tada et al 2023 (The shh limb enhancer is activated in patterned limb regeneration but not in hypomorphic limb regeneration in Xenopus laevis) [1] show that "MFCS1, is activated in limb regeneration of Xenopus", and that "MFCS1 activity correlates with regeneration capacity of a well-patterned limb."