Mutant vasoprenssin precursors in the human hypothalamus: Evidence for neuronal somatic mutations in man

D. A.P. Evans; J. P.H. Burbach; D. F. Swaab; F. W. Van Leeuwen

doi:10.1016/0306-4522(95)00501-3

Mutant vasoprenssin precursors in the human hypothalamus: Evidence for neuronal somatic mutations in man

D. A.P. Evans, J. P.H. Burbach, D. F. Swaab, F. W. Van Leeuwen^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

24 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	1025-1030
Number of pages	6
Journal	Neuroscience
Volume	71
Issue number	4
DOIs	https://doi.org/10.1016/0306-4522(95)00501-3
Publication status	Published - 1 Jan 1996

Keywords

Frameshift mutation
Genomic instability
Neurohypophysics
Oxytocin
Paraventricular nucleus
Supraoptic nucleus

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10.1016/0306-4522(95)00501-3

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title = "Mutant vasoprenssin precursors in the human hypothalamus: Evidence for neuronal somatic mutations in man",

abstract = "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.",

keywords = "Frameshift mutation, Genomic instability, Neurohypophysics, Oxytocin, Paraventricular nucleus, Supraoptic nucleus",

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AU - Evans, D. A.P.

AU - Burbach, J. P.H.

AU - Swaab, D. F.

AU - Van Leeuwen, F. W.

PY - 1996/1/1

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N2 - 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.

AB - 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.

KW - Frameshift mutation

KW - Genomic instability

KW - Neurohypophysics

KW - Oxytocin

KW - Paraventricular nucleus

KW - Supraoptic nucleus

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EP - 1030

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JF - Neuroscience

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ER -

Mutant vasoprenssin precursors in the human hypothalamus: Evidence for neuronal somatic mutations in man

Abstract

Keywords

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