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Literature DB >> 8045562

Exclusion of ferritins and iron-responsive element (IRE)-binding proteins as candidates for the hemochromatosis gene.

H Zheng¹, D Bhavsar, A Volz, A Ziegler, J Drysdale.

Abstract

We have looked for genes for ferritin and its translational control protein that could account for anomalies in the expression of ferritin (FT) and the transferrin receptor in the duodenum of individuals with hemochromatosis (HC). We show that there are probably only two FTH-like sequences near the HC locus on the short arm of chromosome 6 and no FTL-like sequences. We report the cloning of the previously uncharacterized FTH sequence from 6p (FTHL15) and show that it is probably a processed pseudogene. This gene has been mapped with a panel of radiation hybrid cells to near 6p12. Additionally, we show that there are no sequences on chromosome 6p for a protein that coordinately regulates expression of ferritin and the transferrin receptor.

Entities: Chemical Disease Gene

Mesh：

Substances：

Year: 1994 PMID： 8045562 DOI： 10.1007/bf00202862

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

27 in total

1. THE CONTROL OF IRON BALANCE BY THE INTESTINAL MUCOSA.

Authors: W H CROSBY
Journal: Blood Date: 1963-10 Impact factor: 22.113

2. Dinucleotide repeat polymorphism at the D6S105 locus.

Authors: J L Weber; A E Kwitek; P E May; H Y Zoghbi
Journal: Nucleic Acids Res Date: 1991-02-25 Impact factor: 16.971

3. Differential expression of transferrin receptor in duodenal mucosa in iron overload. Evidence for a site-specific defect in genetic hemochromatosis.

Authors: M Lombard; A B Bomford; R J Polson; A J Bellingham; R Williams
Journal: Gastroenterology Date: 1990-04 Impact factor: 22.682

4. Genes for the 'H' subunit of human ferritin are present on a number of human chromosomes.

Authors: S J Cragg; J Drysdale; M Worwood
Journal: Hum Genet Date: 1985 Impact factor: 4.132

5. Human ferritin H and L sequences lie on ten different chromosomes.

Authors: J R McGill; S L Naylor; A Y Sakaguchi; C M Moore; D Boyd; K J Barrett; T B Shows; J W Drysdale
Journal: Hum Genet Date: 1987-05 Impact factor: 4.132

6. HLA class I and H ferritin gene polymorphisms in normal subjects and patients with haemochromatosis.

Authors: S J Cragg; C Darke; M Worwood
Journal: Hum Genet Date: 1988-09 Impact factor: 4.132

7. Introduction of a human X-6 translocation chromosome into a mouse teratocarcinoma: investigation of control of HLA-A, B, C expression.

Authors: P N Goodfellow; G Banting; J Trowsdale; S Chambers; E Solomon
Journal: Proc Natl Acad Sci U S A Date: 1982-02 Impact factor: 11.205

Exclusion of ferritins and iron-responsive element (IRE)-binding proteins as candidates for the hemochromatosis gene.

1. THE CONTROL OF IRON BALANCE BY THE INTESTINAL MUCOSA.

2. Dinucleotide repeat polymorphism at the D6S105 locus.

3. Differential expression of transferrin receptor in duodenal mucosa in iron overload. Evidence for a site-specific defect in genetic hemochromatosis.

4. Genes for the 'H' subunit of human ferritin are present on a number of human chromosomes.

5. Human ferritin H and L sequences lie on ten different chromosomes.

6. HLA class I and H ferritin gene polymorphisms in normal subjects and patients with haemochromatosis.

7. Introduction of a human X-6 translocation chromosome into a mouse teratocarcinoma: investigation of control of HLA-A, B, C expression.

8. Localization of the hemochromatosis gene close to D6S105.

9. Mouse microcytic anaemia caused by a defect in the gene encoding the globin enhancer-binding protein NF-E2.

10. Fine mapping of a human chromosome 6 ferritin heavy chain pseudogene: relevance to haemochromatosis.

1. A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload.

Review 2. Recent advance in molecular iron metabolism: translational disorders of ferritin.

Review 3. FTH1 Pseudogenes in Cancer and Cell Metabolism.