Identification and characterization of the first dmt1 isoform 1a mutation causing a defect in splicing process and an hypomorphic allele expression  of dmt1 gene

De Falco, L; Bruno, Mariasole; Andolfo, I; David, Bp; Girelli, D; Noce, Fd; Camaschella, C; Iolascon, A.

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:	De Falco L Bruno, Mariasole Andolfo I David BP Girelli D Noce FD Camaschella C Iolascon A. mostra contributor esterni nascondi contributor esterni
Data di pubblicazione:	2012
Rivista:	BRITISH JOURNAL OF HAEMATOLOGY
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

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