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PMID: 7913804 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Research Support, U.S. Gov't, P.H.S.

Expression of transcobalamin II mRNA in human tissues and cultured fibroblasts from normal and transcobalamin II-deficient patients.

The Biochemical journal ·Vol. 301 ( Pt 2) ·1994-07-15 ·Pages 585-90

Li N, Seetharam S, Rosenblatt DS, Seetharam B

Abstract

Transcobalamin II (TCII) is an important plasma transporter of cobalamin (Cbl; vitamin B12). In the present study, TCII gene expression in human and rat tissues and in the fibroblasts of patients with TCII deficiency was investigated. Northern-blot analyses revealed expression of TCII mRNA in many human and rat tissues. In humans, this was 14-fold higher in the kidney than in liver, whereas in the rat the levels of expression were similar in the kidney and liver. Southern-blot analysis of genomic DNA from several species revealed sequence similarity in TCII across species. Metabolic labelling and ribonuclease protection assay revealed a 43 kDa TCII protein and a fully protected TCII mRNA band in normal fibroblasts but not in fibroblasts from three TCII-deficient patients. Southern-blot analysis of genomic DNA from all these fibroblasts revealed identical restriction patterns on BamHI, HindIII, KpnI, MspI and EcoRI digestion. On the basis of these results, we suggest that TCII is expressed in multiple tissues, and its level of expression in tissues varies within the same and across species. Furthermore, the TCII deficiency characterized in this study is due to the absence of TCII protein which in turn is due to the absence or extremely low levels of its mRNA and not to detectable gross alterations in the gene structure.

MeSH Terms
Animals Blotting, Northern Blotting, Southern Cells, Cultured DNA/analysis Fibroblasts/metabolism Gene Expression Humans Kidney/metabolism Liver/metabolism Polymorphism, Restriction Fragment Length RNA, Messenger/analysis,metabolism Rats Tissue Distribution Transcobalamins/deficiency,genetics
Chemicals
RNA, Messenger Transcobalamins DNA
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Li N
Department of Biochemistry, Medical College of Wisconsin, Milwaukee 53226.
Seetharam S
Rosenblatt D S
Seetharam B
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Article Info
Journal
The Biochemical journal
Abbr.
Biochem J
ISSN
0264-6021
DOI
10.1042/bj3010585
Published
1994-07-15
Pages
585-90
Language
English
Region
England
NLM ID
2984726R
PMCID
PMC1137121
Subset
IM
Grants
NIDDK NIH HHS · NIDDK-26638 · United States
External Links
PubMed source DOI: 10.1042/bj3010585 PMC Full Text View journal details
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