A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency
- Univ. of British Columbia, Vancouver (Canada)
- Univ. of Washington, Seattle (USA)
Lipoprotein lipase is an important enzyme involved in triacylglycerol metabolism. Primary LPL deficiency is a genetic disorder that is usually manifested by a severe elevation in triacylglycerol levels. The authors have used a recently isolated LPL cDNA clone to study 15 probands from 11 families with this inherited disorder. Surprisingly, 7 of the probands from 4 families, of different ancestries, had a similar insertion in their LPL gene. In contrast to other human genetic disorders, where insertions are rare causes of mutation, this insertion accounts for a significant proportion of the alleles causing LPL deficiency. Detailed restriction mapping of the insertion revealed that it was unlikely to be a duplication of neighboring DNA and that it was not similar to the consensus sequence of human L1 repetitive elements. This suggests that there must be other mechanisms of insertional mutagenesis in human genetic disease besides transposition of mobile L1 repetitive elements.
- OSTI ID:
- 7068454
- Journal Information:
- Proceedings of the National Academy of Sciences of the United States of America; (USA), Vol. 86:3; ISSN 0027-8424
- Country of Publication:
- United States
- Language:
- English
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CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
HEREDITARY DISEASES
MOLECULAR BIOLOGY
LIPASES
BLOOD CHEMISTRY
ENZYME ACTIVITY
LIPOPROTEINS
MAN
RECOMBINANT DNA
ANIMALS
CARBOXYLESTERASES
DISEASES
DNA
ENZYMES
ESTERASES
HYDROLASES
LIPIDS
MAMMALS
MAPPING
MUTATIONS
NUCLEIC ACIDS
ORGANIC COMPOUNDS
PRIMATES
PROTEINS
VERTEBRATES
550400* - Genetics