ArticleThe Journal of clinical investigation1993
Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.
Article in The Journal of clinical investigation, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 106 citations in OpenAlex.
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- Severe Hereditary Pyropoikilocytosis/Hereditary Elliptocytosis-Like Phenotype Associated With a HeterozygousCase reports in hematology · 2026Article
- Advances on the genetic basis of red cell membrane disorders.Current opinion in hematology · 2025Review
- SPTA1-Related Hereditary Spherocytosis: Novel Compound Heterozygous Mutations With Severe Clinical Manifestation.Cureus · 2025Article
- Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis.Orphanet journal of rare diseases · 2024Article
- A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.HemaSphere · 2024Article
- Hereditary Spherocytosis: Can Next-Generation Sequencing of the Five Most Frequently Affected Genes Replace Time-Consuming Functional Investigations?International journal of molecular sciences · 2023Article
- Hereditary elliptocytosis-associated alpha-spectrin mutation p.L155dup as a modifier of sickle cell disease severity.Pediatric blood & cancer · 2019Article
- The Spectrum ofFrontiers in physiology · 2019Article
- KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV: Insights Into the Variable Clinical Severity.Journal of pediatric hematology/oncology · 2018Article
- Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis.Molecular medicine reports · 2018Article
- Diagnostic tool for red blood cell membrane disorders: Assessment of a new generation ektacytometer.Blood cells, molecules & diseases · 2016Article
- Novel exon 2 α spectrin mutation and intragenic crossover: three morphological phenotypes associated with four distinct α spectrin defects.Haematologica · 2013Article
- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Human genetics · 2013Review
- A neonate with Coombs-negative hemolytic jaundice with spherocytes but normal erythrocyte indices: a rare case of autosomal-recessive hereditary spherocytosis due to alpha-spectrin deficiency.Journal of perinatology : official journal of the California Perinatal Association · 2013Article
- A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II.The Journal of clinical endocrinology and metabolism · 2009Article
- Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele.Human mutation · 2009Article
- Article
- A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred.Blood · 2005Article
- Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.Human genetics · 2004Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The alpha V/41 polymorphism of erythroid alpha-spectrin has been characterized initially by an increased susceptibility to proteolysis of the alpha IV-alpha V domain junction (Alloisio N., L. Morlé, J. Maréchal, A.-F. Roux, M.-T. Ducluzeau, D. Guetarni, B. Pothier, F. Baklouti, A. Ghanem, R. Kastally, et al. 1991. J. Clin. Invest. 87:2169-2177). Until now, it has been found associated invariably with a low expression level of the corresponding alpha chain. Among 61 chromosomes investigated in French and North African individuals or kindreds, we observed 19 chromosomes with the alpha V/41 polymorphism. With no single exception, the latter displayed a point mutation in exon 40 (Leu-->Val; CTA-->GTA) at position alpha 1857. According to the triple helical model of spectrin structure, this change accounts for the peptide maps' abnormalities. Sequencing the entire alpha V domain cDNA disclosed, in addition, a partial skipping of exon 46. At the gene level, a substitution (C-->T) was evidenced at nucleotide -12 of intron 45. This mutation appeared linked to the exon 40 mutation in 17 chromosomes, again with no single exception, among 53 examined chromosomes. We hypothesized that the lack of exon 46 would hamper the nucleation process and eventually account for the low expression feature. The present doubly mutated allele was renamed allele alpha LELY (low expression, Lyon).
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