PMID- 10372558
OWN - NLM
STAT- MEDLINE
DCOM- 19990819
LR  - 20191103
IS  - 0945-053X (Print)
IS  - 0945-053X (Linking)
VI  - 18
IP  - 2
DP  - 1999 Apr
TI  - Tissue specificity of a new splice form of the human lysyl hydroxylase 2 gene.
PG  - 179-87
AB  - In this study we present the first report of alternative RNA splicing in a gene
      for lysyl hydroxylase (LH) in a normal population. This splicing event, which we 
      have observed in the LH2 gene, appears to be tissue specific. The LH2 isoform was
      recently cloned and sequenced from a human kidney cDNA library and predicted to
      encode a 737 amino acid protein. In the present study, we have isolated a cDNA
      for LH2 from human skin fibroblasts that codes for a protein of 758 amino acids, 
      of which 21 amino acids are encoded by a new exon. This 63-bp exon, designated
      exon 13A, is located between exons 13 and 14 of the originally-described LH2
      gene. Amplification of cDNAs by PCR, using primers from exons 13 and 14, showed
      the presence of two distinct LH2 mRNA populations. A 209-bp transcript was
      expressed in mRNAs isolated from all tissues examined and was the only transcript
      expressed in skin, lung, aorta and dura, whereas in mRNAs from spleen, cartilage,
      liver, kidney, frontal lobe and placenta, an additional shorter 146-bp transcript
      was amplified. DNA sequence analysis showed that these two mRNAs resulted from
      the alternative splicing of exon 13A. The transcript containing exon 13A is
      expressed as the major LH2 form in all tissues except kidney and spleen. Analysis
      of genomic DNA from skin, placenta and spleen showed that both transcripts were
      generated from the same LH2 gene. Both upstream (intron 13) and downstream
      (intron 13A) sequences bordering exon 13A had normal consensus sequences for the 
      acceptor (ag) and donor (gt) splice sites. Preliminary studies indicated that
      only single transcripts which included exon 13A were amplified from normal fetal 
      skin at different stages of gestation. This suggests that although exon 13A is
      variably expressed in different tissues, this alternative splicing event is not
      developmentally regulated.
FAU - Yeowell, H N
AU  - Yeowell HN
AD  - Division of Dermatology, Duke University Medical Center, Durham, NC 27710, USA.
FAU - Walker, L C
AU  - Walker LC
LA  - eng
SI  - GENBANK/AF085277
GR  - AG10215/AG/NIA NIH HHS/United States
GR  - AR17128/AR/NIAMS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Netherlands
TA  - Matrix Biol
JT  - Matrix biology : journal of the International Society for Matrix Biology
JID - 9432592
RN  - 0 (DNA, Complementary)
RN  - EC 1.14.11.4 (Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase)
SB  - IM
MH  - *Alternative Splicing
MH  - Base Sequence
MH  - Cells, Cultured
MH  - Child, Preschool
MH  - DNA, Complementary
MH  - Exons
MH  - Female
MH  - Fibroblasts/cytology/enzymology
MH  - Gene Expression Regulation, Developmental
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Molecular Sequence Data
MH  - Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase/*genetics
MH  - Skin/cytology/enzymology
MH  - Tissue Distribution
EDAT- 1999/06/18 00:00
MHDA- 1999/06/18 00:01
CRDT- 1999/06/18 00:00
PHST- 1999/06/18 00:00 [pubmed]
PHST- 1999/06/18 00:01 [medline]
PHST- 1999/06/18 00:00 [entrez]
AID - S0945-053X(99)00013-X [pii]
AID - 10.1016/s0945-053x(99)00013-x [doi]
PST - ppublish
SO  - Matrix Biol. 1999 Apr;18(2):179-87. doi: 10.1016/s0945-053x(99)00013-x.