Progressive Loss of Function in a Limb Enhancer during Snake Evolution

Autor: Catherine S. Pickle, Elizabeth Lee, Ingrid Plajzer-Frick, Veena Afzal, Brandon J. Mannion, Len A. Pennacchio, Diane E. Dickel, Momoe Kato, Evgeny Z. Kvon, Javier Lopez-Rios, Tyler H. Garvin, Jennifer A. Akiyama, Olga K. Kamneva, Axel Visel, Iros Barozzi, Marco Osterwalder, Virginie Tissières, Edward M. Rubin, Uirá Souto Melo
Rok vydání: 2016
Předmět:
0301 basic medicine
medicine.disease_cause
Medical and Health Sciences
Transgenic
Mice
0302 clinical medicine
ZRS
Gene Knock-In Techniques
Sonic hedgehog
11 Medical and Health Sciences
Phylogeny
Genetics
Mutation
biology
evo-devo
Snakes
cis-regulatory element
Biological Sciences
Biological Evolution
Cell biology
Enhancer Elements
Genetic
Regulatory sequence
Biotechnology
Enhancer Elements
Evolution
Mice
Transgenic
General Biochemistry
Genetics and Molecular Biology
Evolution
Molecular
03 medical and health sciences
Genetic
medicine
Limb development
Animals
genome editing
Hedgehog Proteins
Enhancer
CRISPR/Cas9
Loss function
Base Sequence
Human Genome
Molecular
Extremities
06 Biological Sciences
DNA binding site
030104 developmental biology
Body plan
morphological evolution
limb development
biology.protein
enhancer
030217 neurology & neurosurgery
Developmental Biology
Zdroj: Cell, vol 167, iss 3
642.e11
Kvon, EZ; Kamneva, OK; Melo, US; Barozzi, I; Osterwalder, M; Mannion, BJ; et al.(2016). Progressive Loss of Function in a Limb Enhancer during Snake Evolution. Cell, 167(3), 633-642.e11. doi: 10.1016/j.cell.2016.09.028. Lawrence Berkeley National Laboratory: Retrieved from: http://www.escholarship.org/uc/item/1tk697vx
DOI: 10.1016/j.cell.2016.09.028.
Popis: © 2016 Elsevier Inc. The evolution of body shape is thought to be tightly coupled to changes in regulatory sequences, but specific molecular events associated with major morphological transitions in vertebrates have remained elusive. We identified snake-specific sequence changes within an otherwise highly conserved long-range limb enhancer of Sonic hedgehog (Shh). Transgenic mouse reporter assays revealed that the in vivo activity pattern of the enhancer is conserved across a wide range of vertebrates, including fish, but not in snakes. Genomic substitution of the mouse enhancer with its human or fish ortholog results in normal limb development. In contrast, replacement with snake orthologs caused severe limb reduction. Synthetic restoration of a single transcription factor binding site lost in the snake lineage reinstated full in vivo function to the snake enhancer. Our results demonstrate changes in a regulatory sequence associated with a major body plan transition and highlight the role of enhancers in morphological evolution.
Databáze: OpenAIRE
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