Osteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen.
Identifieur interne : 007B23 ( Ncbi/Checkpoint ); précédent : 007B22; suivant : 007B24Osteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen.
Auteurs : R J Wenstrup ; P. Tsipouras ; P H ByersSource :
- Journal of Clinical Investigation [ 0021-9738 ] ; 1986.
Abstract
Fibroblasts from two affected members of a large pedigree in which osteogenesis imperfecta (OI) type IV is genetically linked to the pro alpha 2(I) gene of type I collagen synthesize two populations of pro alpha 2(I) chains. One population is normal; the second population appears to have a deletion of about 10 amino acid residues from the middle of the triple helical domain. The mutation in pro alpha 2(I) causes increased posttranslational modification in the amino-terminal half of some pro alpha 1(I) chains, lowers the melting temperature of type I collagen molecules that incorporate a mutant pro alpha 2(I) chain, and prevents or delays the secretion of those molecules from fibroblasts in cell culture. On the basis of this study and linkage studies in additional families, it appears that the OI type IV phenotype is often the result of heterozygosity for mutations in pro alpha 2(I) that alter the triple helical structure of type I collagen.
Url:
PubMed: 3782466
PubMed Central: 423890
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 001566
- to stream Pmc, to step Curation: 001566
- to stream Pmc, to step Checkpoint: 002942
- to stream Ncbi, to step Merge: 007B23
- to stream Ncbi, to step Curation: 007B23
Links to Exploration step
PMC:423890Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Osteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen.</title><author><name sortKey="Wenstrup, R J" sort="Wenstrup, R J" uniqKey="Wenstrup R" first="R J" last="Wenstrup">R J Wenstrup</name></author><author><name sortKey="Tsipouras, P" sort="Tsipouras, P" uniqKey="Tsipouras P" first="P" last="Tsipouras">P. Tsipouras</name></author><author><name sortKey="Byers, P H" sort="Byers, P H" uniqKey="Byers P" first="P H" last="Byers">P H Byers</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">3782466</idno><idno type="pmc">423890</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC423890</idno><idno type="RBID">PMC:423890</idno><date when="1986">1986</date><idno type="wicri:Area/Pmc/Corpus">001566</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001566</idno><idno type="wicri:Area/Pmc/Curation">001566</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001566</idno><idno type="wicri:Area/Pmc/Checkpoint">002942</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002942</idno><idno type="wicri:Area/Ncbi/Merge">007B23</idno><idno type="wicri:Area/Ncbi/Curation">007B23</idno><idno type="wicri:Area/Ncbi/Checkpoint">007B23</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Osteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen.</title><author><name sortKey="Wenstrup, R J" sort="Wenstrup, R J" uniqKey="Wenstrup R" first="R J" last="Wenstrup">R J Wenstrup</name></author><author><name sortKey="Tsipouras, P" sort="Tsipouras, P" uniqKey="Tsipouras P" first="P" last="Tsipouras">P. Tsipouras</name></author><author><name sortKey="Byers, P H" sort="Byers, P H" uniqKey="Byers P" first="P H" last="Byers">P H Byers</name></author></analytic><series><title level="j">Journal of Clinical Investigation</title><idno type="ISSN">0021-9738</idno><imprint><date when="1986">1986</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Fibroblasts from two affected members of a large pedigree in which osteogenesis imperfecta (OI) type IV is genetically linked to the pro alpha 2(I) gene of type I collagen synthesize two populations of pro alpha 2(I) chains. One population is normal; the second population appears to have a deletion of about 10 amino acid residues from the middle of the triple helical domain. The mutation in pro alpha 2(I) causes increased posttranslational modification in the amino-terminal half of some pro alpha 1(I) chains, lowers the melting temperature of type I collagen molecules that incorporate a mutant pro alpha 2(I) chain, and prevents or delays the secretion of those molecules from fibroblasts in cell culture. On the basis of this study and linkage studies in additional families, it appears that the OI type IV phenotype is often the result of heterozygosity for mutations in pro alpha 2(I) that alter the triple helical structure of type I collagen.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><graphic xlink:href="jcinvest00111-0043-a" xlink:role="1451"></graphic></fig><fig id="F2"><graphic xlink:href="jcinvest00111-0043-b" xlink:role="1451"></graphic></fig><fig id="F3"><graphic xlink:href="jcinvest00111-0043-c" xlink:role="1451"></graphic></fig><fig id="F4"><graphic xlink:href="jcinvest00111-0043-d" xlink:role="1451"></graphic></fig><fig id="F5"><graphic xlink:href="jcinvest00111-0044-a" xlink:role="1452"></graphic></fig><fig id="F6"><graphic xlink:href="jcinvest00111-0044-b" xlink:role="1452"></graphic></fig><fig id="F7"><graphic xlink:href="jcinvest00111-0044-c" xlink:role="1452"></graphic></fig><fig id="F8"><graphic xlink:href="jcinvest00111-0044-d" xlink:role="1452"></graphic></fig><fig id="F9"><graphic xlink:href="jcinvest00111-0044-e" xlink:role="1452"></graphic></fig><fig id="F10"><graphic xlink:href="jcinvest00111-0044-f" xlink:role="1452"></graphic></fig><fig id="F11"><graphic xlink:href="jcinvest00111-0045-a" xlink:role="1453"></graphic></fig><fig id="F12"><graphic xlink:href="jcinvest00111-0045-b" xlink:role="1453"></graphic></fig></sec></div></front></TEI><affiliations><list></list><tree><noCountry><name sortKey="Byers, P H" sort="Byers, P H" uniqKey="Byers P" first="P H" last="Byers">P H Byers</name><name sortKey="Tsipouras, P" sort="Tsipouras, P" uniqKey="Tsipouras P" first="P" last="Tsipouras">P. Tsipouras</name><name sortKey="Wenstrup, R J" sort="Wenstrup, R J" uniqKey="Wenstrup R" first="R J" last="Wenstrup">R J Wenstrup</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/EdenteV2/Data/Ncbi/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 007B23 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd -nk 007B23 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= EdenteV2
|flux= Ncbi
|étape= Checkpoint
|type= RBID
|clé= PMC:423890
|texte= Osteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Checkpoint/RBID.i -Sk "pubmed:3782466" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Checkpoint/biblio.hfd \
| NlmPubMed2Wicri -a EdenteV2
| This area was generated with Dilib version V0.6.32. |  |