RGD Reference Report - Different impacts of alleles alphaLEPRA and alphaLELY as assessed versus a novel, virtually null allele of the SPTA1 gene in trans. - Rat Genome Database

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Different impacts of alleles alphaLEPRA and alphaLELY as assessed versus a novel, virtually null allele of the SPTA1 gene in trans.

Authors: Delaunay, J  Nouyrigat, V  Proust, A  Schischmanoff, PO  Cynober, T  Yvart, J  Gaillard, C  Danos, O  Tchernia, G 
Citation: Delaunay J, etal., Br J Haematol. 2004 Oct;127(1):118-22.
RGD ID: 11059521
Pubmed: (View Article at PubMed) PMID:15384986
DOI: Full-text: DOI:10.1111/j.1365-2141.2004.05160.x

The family of two siblings with severe hereditary spherocytosis was investigated. The decrease was evident on both the alpha- and the beta-chains. The parents were haematologically normal. The mother was heterozygous for the low-expression polymorphic allele alphaLEPRA. The father was heterozygous for a novel combination in which one allele showed the alpha-spectrin low expression polymorphic allele alphaLELY, while his other allele showed the alphaLELY polymorphism in cis with a G-->A substitution, named Bicetre, found at the extreme 3' end of exon 51. This combination was designated alpha(LELY-Bicetre). The children were compound heterozygotes for alleles alphaLEPRA and alpha(LELY-Bicetre). Reverse transcription polymerase chain reaction detected only trace amounts of the mRNA coding for alpha(LELY-Bicetre). Mutation is therefore an essentially null mutation with no functional protein product. The lack of disease in the alphaLELY/(LELY-Bicetre) father compared with the marked haemolysis in the alphaLEPRA/alpha(LELY-Bicetre) children showed that expression of allele alphaLELY is not low enough to expose null alpha-spectrin alleles on the other chromosome. Quantitative estimations from these findings suggest that, to evoke spherocytosis, it is necessary that alpha-spectrin expression must be reduced to less than 25% of normal, while a reduction to 8% is sufficient.

Annotation

Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Spta1  (spectrin, alpha, erythrocytic 1)

Genes (Mus musculus)
Spta1  (spectrin alpha, erythrocytic 1)

Genes (Homo sapiens)
SPTA1  (spectrin alpha, erythrocytic 1)


Additional Information