A spontaneous mouse deletion in Mctp1 uncovers a long-range cis-regulatory region crucial for NR2F1 function during inner ear development

Hundreds of thousands of cis-regulatory DNA sequences are predicted in vertebrate genomes, but unlike genes themselves, few have been characterized at the functional level or even unambiguously paired with a target gene. Here we serendipitously identified and started investigating the first reported...

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Veröffentlicht in:	Developmental biology 2018-11, Vol.443 (2), p.153-164
Hauptverfasser:	Tarchini, Basile, Longo-Guess, Chantal, Tian, Cong, Tadenev, Abigail L.D., Devanney, Nicholas, Johnson, Kenneth R.
Format:	Artikel
Sprache:	eng
Schlagworte:	alleles Animals Cis-regulation COUP Transcription Factor I - genetics COUP Transcription Factor I - metabolism COUP Transcription Factor I - physiology Deafness Deafness - genetics death DNA Ear, Inner - embryology Ear, Inner - metabolism ears Enhancer Elements, Genetic - genetics epithelium exons Female fruits Gene Deletion gene expression regulation Gene Expression Regulation, Developmental - genetics Gene Knockout Techniques hearing hearing disorders homozygosity Humans Inner ear development introns Long-range enhancer Male Mctp1 Membrane Proteins - genetics Membrane Proteins - metabolism Mice Mice, Inbred C57BL mutants Nr2f1 protein synthesis spontaneous mutation transcription (genetics) transcription factors
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