The human SLC11A2 (DMT1) gene encodes four mRNA transcripts, differing by alternative promoters at 5′ and splicing at 3′ UTR (Fleming et al, 1998; Iolascon & De Falco, 2009). SLC11A2 mutations have been reported in subjects from five unrelated families affected with microcytic anaemia (Mims et al, 2005; Beaumont et al, 2006; Iolascon et al, 2006; Blanco et al, 2009; Bardou-Jacquet et al, 2011). Four of the five cases had a phenotype of microcytic anaemia with increased serum iron and increased transferrin saturation and iron accumulation in the liver (Mims et al, 2005; Beaumont et al, 2006; Iolascon et al, 2006; Bardou-Jacquet et al, 2011) and the mutations affected all SLC11A2 isoforms. To date, no mutations that specifically affect the intestinal SLC11A2 1A isoform have been described.
Titolo: | Identification and characterization of the first dmt1 isoform 1a mutation causing a defect in splicing process and an hypomorphic allele expression of dmt1 gene |
Autori: | |
Data di pubblicazione: | 2012 |
Rivista: | |
Abstract: | The human SLC11A2 (DMT1) gene encodes four mRNA transcripts, differing by alternative promoters at 5′ and splicing at 3′ UTR (Fleming et al, 1998; Iolascon & De Falco, 2009). SLC11A2 mutations have been reported in subjects from five unrelated families affected with microcytic anaemia (Mims et al, 2005; Beaumont et al, 2006; Iolascon et al, 2006; Blanco et al, 2009; Bardou-Jacquet et al, 2011). Four of the five cases had a phenotype of microcytic anaemia with increased serum iron and increased transferrin saturation and iron accumulation in the liver (Mims et al, 2005; Beaumont et al, 2006; Iolascon et al, 2006; Bardou-Jacquet et al, 2011) and the mutations affected all SLC11A2 isoforms. To date, no mutations that specifically affect the intestinal SLC11A2 1A isoform have been described. |
Handle: | http://hdl.handle.net/11562/827966 |
Appare nelle tipologie: | 01.02 Recensione in Rivista |