T-box 3 is expressed in the adult mouse hypothalamus and medulla.
Using microarray analysis, in situ hybridization and immunocytochemistry, we found that the transcription factor TBX3 is produced in three discrete neuronal populations of the adult mouse brain, the arcuate nucleus (including in NPY but not dopaminergic neurons), the histaminergic tuberomammillary nucleus and in cholinergic neurons of the solitary tract nucleus. The immunoreactive protein had a nuclear location in these neurons, consistent with its function as a transcription factor. Although the function of tbx3 in these neurons is unknown, a review of the literature strongly suggests that these neuronal populations may be abnormal in Ulnar-Mammary syndrome patients with tbx3 mutations, explaining previously overlooked phenotypes in this syndrome, such as obesity, sexual dysfunction and possibly sleep abnormalities.
Eriksson
Krister S
KS
Center for Narcolepsy, Stanford University, Palo Alto, CA 94304-5742, USA.
Mignot
Emmanuel
E
D000109:Acetylcholine / Q000378:metabolism; D000818:Animals; D001111:Arcuate Nucleus of Hypothalamus / Q000166:cytology / Q000378:metabolism*; D001931:Brain Mapping; D002467:Cell Nucleus / Q000378:metabolism / Q000648:ultrastructure; D005786:Gene Expression Regulation / Q000502:physiology; D007026:Hypothalamic Area, Lateral / Q000166:cytology / Q000378:metabolism*; D007150:Immunohistochemistry; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D009474:Neurons / Q000166:cytology / Q000378:metabolism*; D009478:Neuropeptide Y / Q000378:metabolism; D009765:Obesity / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D017552:Solitary Nucleus / Q000166:cytology / Q000378:metabolism*; D013577:Syndrome; D020825:T-Box Domain Proteins / Q000032:analysis / Q000378:metabolism*; D014157:Transcription Factors / Q000378:metabolism
D009478:Neuropeptide Y; D020825:T-Box Domain Proteins; C491460:Tbx3 protein, mouse; D014157:Transcription Factors; D000109:Acetylcholine