Literature DB >> 8120423

Sequence analysis of a cDNA for lysyl hydroxylase isolated from human skin fibroblasts from a normal donor: differences from human placental lysyl hydroxylase cDNA.

H N Yeowell1, V Ha, W L Clark, M K Marshall, S R Pinnell.   

Abstract

Using polymerase chain reaction, we have isolated and sequenced a 3-kb cDNA for lysyl hydroxylase (LH) from human skin fibroblasts from an normal donor. Apart from two polymorphic sites, no differences were observed between the 2184 nt coding regions of LH cDNA from fibroblasts and placenta. However, four differences were observed in the 3' non-coding regions of the two cDNAs; three were single base changes and the fourth a deletion of a single base. The absence of the single nucleotide in the LH cDNA from fibroblasts resulted in the loss of an HpaII site that is present in the placental LH cDNA; this was confirmed in HpaII digests of fibroblast and placental LH cDNAs from the same donor. Northern blots showed that the LH gene was strongly expressed in fibroblasts and placenta and, to a lesser extent, in aorta, lung, vein, cartilage, and artery.

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Year:  1994        PMID: 8120423     DOI: 10.1111/1523-1747.ep12371799

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN: 0022-202X            Impact factor:   8.551


  3 in total

1.  Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17.

Authors:  R A Bank; S P Robins; C Wijmenga; L J Breslau-Siderius; A F Bardoel; H A van der Sluijs; H E Pruijs; J M TeKoppele
Journal:  Proc Natl Acad Sci U S A       Date:  1999-02-02       Impact factor: 11.205

2.  Genomic structure and embryonic expression of zebrafish lysyl hydroxylase 1 and lysyl hydroxylase 2.

Authors:  Valerie A Schneider; Michael Granato
Journal:  Matrix Biol       Date:  2006-09-19       Impact factor: 11.583

3.  A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene.

Authors:  V T Ha; M K Marshall; L J Elsas; S R Pinnell; H N Yeowell
Journal:  J Clin Invest       Date:  1994-04       Impact factor: 14.808

  3 in total

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