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A novel mobile element inserted in the alpha spectrin gene: spectrin dayton. A truncated alpha spectrin associated with hereditary elliptocytosis


, : A novel mobile element inserted in the alpha spectrin gene: spectrin dayton. A truncated alpha spectrin associated with hereditary elliptocytosis. Journal of Clinical Investigation 94(2): 643-648

Nonviral retrotransposons, retropseudogenes, and short interspersed nuclear elements (SINEs) are mobile DNA segments capable of transposition to new genomic locations, where they may alter gene expression. De novo integration into specific genes has been described in both germ and somatic cells. We report a family with hereditary elliptocytosis and pyropoikilocytosis associated with a truncated alpha-spectrin protein. We present the biochemical characteristics of this abnormal protein and show that the alpha-spectrin gene is disrupted by a mobile element resulting in exon skipping. This element causes duplication of the insertion site and is terminated by a long poly-A tail downstream of multiple consensus polyadenylation signals. Southern blot analysis of human genomic DNA, using this element as probe, reveals one to three copies per individual. This element has no homology to any previously reported sequence and therefore appears to be a member of a novel family of mobile elements.

US$19.90

PMID: 8040317

DOI: 10.1172/JCI117380


Other references

Martín-Santiago, A., 2017: Spanish Pediatric Dermatology in the International Focus of Attention. Actas Dermo-Sifiliograficas 108(8): 699-700

Rebattu, J.P.; Colin, B.; Maligot, C., 1983: Epidermoid carcinoma with pseudosarcomatous stroma (or pseudosarcoma) in ORL (apropos of a case). Journal Francais D'oto-Rhino-Laryngologie; Audiophonologie, Chirurgie Maxillo-Faciale 32(5): 340-341

Lin, Y.; Shi, G.; Gao, D.; Liu, D., 2013: High-resolution spectral imaging based on coded dispersion. Since the energy of the incident light is constant, the spatial and spectral resolution can hardly be improved without scarifying the other with the spectral imaging method of a pushbroom scanner. Thus, a new spectral imaging method is proposed to...

Belzer, F.O., 1967: The role of venous obstruction in the formation of intra-abdominal adhesions: an experimental study. British Journal of Surgery 54(3): 189-190

Han, J-Kyu.; Oh, K.; Kim, B-Jo.; Koh, S-Beom.; Kim, J-Yeon.; Park, K-Woo.; Lee, D-Hie., 2007: Cutaneous silent period in patients with restless leg syndrome. Objective: To investigate the pathophysiological relationship between RLS and small fiber neuropathy using the cutaneous silent period (CSP), which is a spinal reflex mediated by A delta cutaneous afferents and is useful for the evaluation of sma...

Tendas, A.; Niscola, P.; Scaramucci, L.; Giovannini, M.; Dentamaro, T.; Perrotti, A.Pio.; de Fabritiis, P., 2015: Motor disability, clinical complications, quality of life, and survival in patients with cancer: a plausible scenario. Supportive Care in Cancer 22(10): 2603-2604

Basset, Y.; Charles, E.; Novotny, V., 1999: Insect herbivores on parent trees and conspecific seedlings in a Guyana rain forest. More than 14 500 insect herbivores were collected in a rain forest in Guyana from 10 000 seedlings belonging to five plant species (Chlorocardium rodiei, Mora gonggrijpii, Eperua rubiginosa, Pentaclethra macroloba and Catostemma fragrans), their p...

Briceno Iragorry, L., 1954: 50th Anniversary of the Academia Nacional de Medicina. Gaceta Medica de Caracas 62(6): 163-366

Anon, 1991: Practical response following the discovery of syphilitic serology in a blood donor. Revue Francaise de Transfusion et d'Hemobiologie 34(4): 351-353

Massy, Anne L., 1911: Mollusca and a Cumacean new to Ireland. Irish Naturalist, 20 77