Mutant vasopressin precursors in the human hypothalamus: evidence for neuronal somatic mutations in man.
We report here the expression of mutant proteins displaying the +1 reading frame of the vasopressin and oxytocin precursors in magnocellular neurons of the human hypothalamus. Our data demonstrate a high frequency of frameshift mutations in these neurons and thus provide the first evidence of somatic mutations in neurons of the human brain. The results imply that other neuronal populations and specific genes may also undergo similar mutational events with possible consequences for neuronal functioning and pathology.
Evans
D A
DA
Graduate School Neurosciences Amsterdam, Netherlands Institute for Brain Research, The Netherlands.
Burbach
J P
JP
Swaab
D F
DF
van Leeuwen
F W
FW
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000595:Amino Acid Sequence; D000918:Antibody Specificity; D005260:Female; D016368:Frameshift Mutation / Q000502:physiology; D006801:Humans; D007031:Hypothalamus / Q000737:chemistry*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009474:Neurons / Q000737:chemistry* / Q000276:immunology / Q000502:physiology; D010121:Oxytocin / Q000032:analysis / Q000235:genetics; D011498:Protein Precursors / Q000235:genetics* / Q000276:immunology; D014667:Vasopressins / Q000032:analysis / Q000235:genetics*
D011498:Protein Precursors; D014667:Vasopressins; D010121:Oxytocin