Abstract |
Mapping of the human MAOA gene to chromosomal region Xp21-p11 prompted our study of two affected males in a family previously reported to have Norrie disease resulting from a submicroscopic deletion in this chromosomal region. In this investigation we demonstrate in these cousins deletion of the MAOA gene, undetectable levels of MAO-A and MAO-B activities in their fibroblasts and platelets, respectively, loss of mRNA for MAO-A in fibroblasts, and substantial alterations in urinary catecholamine metabolites. The present study documents that a marked deficiency of MAO activity is compatible with life and that genes for MAO-A and MAO-B are near each other in this Xp chromosomal region. Some of the clinical features of these MAO deletion patients may help to identify X-linked MAO deficiency diseases in humans.
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Authors | K B Sims, A de la Chapelle, R Norio, E M Sankila, Y P Hsu, W B Rinehart, T J Corey, L Ozelius, J F Powell, G Bruns |
Journal | Neuron
(Neuron)
Vol. 2
Issue 1
Pg. 1069-76
(Jan 1989)
ISSN: 0896-6273 [Print] United States |
PMID | 2483108
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- Isoenzymes
- RNA
- DNA
- Monoamine Oxidase
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Topics |
- Adolescent
- Adult
- Blood Platelets
(enzymology)
- Blotting, Northern
- Blotting, Southern
- Cells, Cultured
- Child
- Chromosome Deletion
- DNA
(genetics, isolation & purification)
- Female
- Fibroblasts
(enzymology)
- Humans
- Isoenzymes
(deficiency, genetics, metabolism)
- Male
- Monoamine Oxidase
(deficiency, genetics, metabolism)
- Pedigree
- RNA
(genetics, isolation & purification)
- Reference Values
- Sex Chromosome Aberrations
- Skin
(enzymology)
- X Chromosome
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