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Structure and expression of the human cystatin C gene

Abrahamson, Magnus LU ; Olafsson, Isleifur ; Palsdottir, Astridur ; Ulvsbäck, Magnus ; Lundwall, Åke LU ; Jensson, Olafur and Grubb, Anders LU orcid (1990) In Biochemical Journal 268(2). p.287-294
Abstract
The structural organization of the gene for the human cysteine-proteinase inhibitor cystatin C was studied. Restriction-endonuclease digests of human genomic DNA hybridized with human cystatin C cDNA and genomic probes produced patterns consistent with a single cystatin C gene and, also, the presence of six closely related sequences in the human genome. A 30 kb restriction map covering the genomic region of the cystatin C gene was constructed. The positions of three polymorphic restriction sites, found at examination of digests of genomic DNA from 79 subjects, were localized in the flanking regions of the gene. The gene was cloned and the nucleotide sequence of a 7.3 kb genomic segment was determined, containing the three exons of the... (More)
The structural organization of the gene for the human cysteine-proteinase inhibitor cystatin C was studied. Restriction-endonuclease digests of human genomic DNA hybridized with human cystatin C cDNA and genomic probes produced patterns consistent with a single cystatin C gene and, also, the presence of six closely related sequences in the human genome. A 30 kb restriction map covering the genomic region of the cystatin C gene was constructed. The positions of three polymorphic restriction sites, found at examination of digests of genomic DNA from 79 subjects, were localized in the flanking regions of the gene. The gene was cloned and the nucleotide sequence of a 7.3 kb genomic segment was determined, containing the three exons of the cystatin C structural gene as well as 1.0 kb of 5'-flanking and 2.0 kb of 3'-flanking sequences. Northern-blot experiments revealed that the cystatin C gene is expressed in every human tissue examined, including kidney, liver, pancreas, intestine, stomach, antrum, lung and placenta. The highest cystatin C expression was seen in seminal vesicles. The apparently non-tissue-specific expression of this cysteine-proteinase inhibitor gene is discussed with respect to the structure of its 5'-flanking region, which shares several features with those of housekeeping genes. (Less)
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author
; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Biochemical Journal
volume
268
issue
2
pages
287 - 294
publisher
Portland Press
external identifiers
  • scopus:0025303610
ISSN
1470-8728
language
English
LU publication?
yes
id
1eb4d668-3378-4eab-9731-e5320cb14424 (old id 1105530)
alternative location
http://www.biochemj.org/bj/268/0287/2680287.pdf
http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=1131430&blobtype=pdf
date added to LUP
2016-04-01 15:57:47
date last changed
2021-10-03 05:13:11
@article{1eb4d668-3378-4eab-9731-e5320cb14424,
  abstract     = {{The structural organization of the gene for the human cysteine-proteinase inhibitor cystatin C was studied. Restriction-endonuclease digests of human genomic DNA hybridized with human cystatin C cDNA and genomic probes produced patterns consistent with a single cystatin C gene and, also, the presence of six closely related sequences in the human genome. A 30 kb restriction map covering the genomic region of the cystatin C gene was constructed. The positions of three polymorphic restriction sites, found at examination of digests of genomic DNA from 79 subjects, were localized in the flanking regions of the gene. The gene was cloned and the nucleotide sequence of a 7.3 kb genomic segment was determined, containing the three exons of the cystatin C structural gene as well as 1.0 kb of 5'-flanking and 2.0 kb of 3'-flanking sequences. Northern-blot experiments revealed that the cystatin C gene is expressed in every human tissue examined, including kidney, liver, pancreas, intestine, stomach, antrum, lung and placenta. The highest cystatin C expression was seen in seminal vesicles. The apparently non-tissue-specific expression of this cysteine-proteinase inhibitor gene is discussed with respect to the structure of its 5'-flanking region, which shares several features with those of housekeeping genes.}},
  author       = {{Abrahamson, Magnus and Olafsson, Isleifur and Palsdottir, Astridur and Ulvsbäck, Magnus and Lundwall, Åke and Jensson, Olafur and Grubb, Anders}},
  issn         = {{1470-8728}},
  language     = {{eng}},
  number       = {{2}},
  pages        = {{287--294}},
  publisher    = {{Portland Press}},
  series       = {{Biochemical Journal}},
  title        = {{Structure and expression of the human cystatin C gene}},
  url          = {{http://www.biochemj.org/bj/268/0287/2680287.pdf}},
  volume       = {{268}},
  year         = {{1990}},
}