title: The transcription factor c-Maf controls touch receptor development and function.
abstract: The sense of touch relies on detection of mechanical stimuli by specialized mechanosensory neurons. The scarcity of molecular data has made it difficult to analyze development of mechanoreceptors and to define the basis of their diversity and function. We show that the transcription factor c-Maf/c-MAF is crucial for mechanosensory function in mice and humans. The development and function of several rapidly adapting mechanoreceptor types are disrupted in c-Maf mutant mice. In particular, Pacinian corpuscles, a type of mechanoreceptor specialized to detect high-frequency vibrations, are severely atrophied. In line with this, sensitivity to high-frequency vibration is reduced in humans carrying a dominant mutation in the c-MAF gene. Thus, our work identifies a key transcription factor specifying development and function of mechanoreceptors and their end organs.
authors.affiliation: Developmental Biology, Max Delbrück Center (MDC) for Molecular Medicine, Berlin, Germany.
authors.forename: Hagen
authors.initials: H
authors.lastname: Wende
authors.forename: Stefan G
authors.initials: SG
authors.lastname: Lechner
authors.forename: Cyril
authors.initials: C
authors.lastname: Cheret
authors.forename: Steeve
authors.initials: S
authors.lastname: Bourane
authors.forename: Maria E
authors.initials: ME
authors.lastname: Kolanczyk
authors.forename: Alexandre
authors.initials: A
authors.lastname: Pattyn
authors.forename: Katja
authors.initials: K
authors.lastname: Reuter
authors.forename: Francis L
authors.initials: FL
authors.lastname: Munier
authors.forename: Patrick
authors.initials: P
authors.lastname: Carroll
authors.forename: Gary R
authors.initials: GR
authors.lastname: Lewin
authors.forename: Carmen
authors.initials: C
authors.lastname: Birchmeier
mesh_terms: D000818:Animals; D005727:Ganglia, Spinal / Q000166:cytology / Q000196:embryology; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D051473:Maf Transcription Factors, Large / Q000235:genetics / Q000378:metabolism; D008465:Mechanoreceptors / Q000166:cytology* / Q000502:physiology*; D051379:Mice; D009154:Mutation; D010141:Pacinian Corpuscles / Q000166:cytology / Q000502:physiology; D051257:Proto-Oncogene Proteins c-maf / Q000235:genetics / Q000378:metabolism*; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics / Q000378:metabolism; D012867:Skin / Q000294:innervation; D014110:Touch; D014732:Vibration
chemical_list: C495607:MAF protein, human; D051473:Maf Transcription Factors, Large; C495608:Maf protein, mouse; C485160:Mafa protein, mouse; D051257:Proto-Oncogene Proteins c-maf; D051096:Proto-Oncogene Proteins c-ret; C494999:Ret protein, mouse