title: Dystrophin Dp71 Isoforms Are Differentially Expressed in the Mouse Brain and Retina: Report of New Alternative Splicing and a Novel Nomenclature for Dp71 Isoforms.
abstract: Multiple dystrophin Dp71 isoforms have been identified in rats, mice, and humans and in several cell line models. These Dp71 isoforms are produced by the alternative splicing of exons 71 to 74 and 78 and intron 77. Three main groups of Dp71 proteins are defined based on their C-terminal specificities: Dp71d, Dp71f, and Dp71e. Dp71 is highly expressed in the brain and retina; however, the specific isoforms present in these tissues have not been determined to date. In this work, we explored the expression of Dp71 isoforms in the mouse brain and retina using RT-PCR assays followed by the cloning of PCR products into the pGEM-T Easy vector, which was used to transform DH5α cells. Dp71-positive colonies were later analyzed by PCR multiplex and DNA sequencing to determine the alternative splicing. We thus demonstrated the expression of Dp71 transcripts corresponding to Dp71, Dp71a, Dp71c, Dp71b, Dp71ab, Dp71Δ110, and novel Dp71 isoforms spliced in exon 74; 71 and 74; 71, 73 and 74; and 74 and 78, which we named Dp71dΔ74, Dp71dΔ71,74, Dp71dΔ71,73-74, and Dp71fΔ74, respectively. Additionally, we demonstrated that the Dp71d group of isoforms is highly expressed in the brain, while the Dp71f group predominates in the retina, at both the cDNA and protein levels. These findings suggest that distinct Dp71 isoforms may play different roles in the brain and retina.
authors.affiliation: Departamento de Genética y Biología Molecular, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional (CINVESTAV), Mexico City, Mexico.|Sorbonne Universités, UPMC Université Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France.
authors.forename: Jorge
authors.initials: J
authors.lastname: Aragón
authors.affiliation: Departamento de Genética y Biología Molecular, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional (CINVESTAV), Mexico City, Mexico.
authors.forename: Mayram
authors.initials: M
authors.lastname: González-Reyes
authors.affiliation: Departamento de Genética y Biología Molecular, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional (CINVESTAV), Mexico City, Mexico.|Sorbonne Universités, UPMC Université Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France.|Departamento de Genómica Humana, Instituto Nacional de Perinatología, Mexico City, Mexico.
authors.forename: José
authors.initials: J
authors.lastname: Romo-Yáñez
authors.affiliation: Departamento de Genética y Biología Molecular, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional (CINVESTAV), Mexico City, Mexico.|Sorbonne Universités, UPMC Université Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France.|Neuroscience Paris-Saclay Institute (Neuro-PSI), UMR 9197, Université Paris Sud, CNRS, Université Paris Saclay, Orsay, France.
authors.forename: Ophélie
authors.initials: O
authors.lastname: Vacca
authors.affiliation: Departamento de Genética y Biología Molecular, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional (CINVESTAV), Mexico City, Mexico.
authors.forename: Guadalupe
authors.initials: G
authors.lastname: Aguilar-González
authors.affiliation: Sorbonne Universités, UPMC Université Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France.
authors.forename: Alvaro
authors.initials: A
authors.lastname: Rendón
authors.affiliation: Neuroscience Paris-Saclay Institute (Neuro-PSI), UMR 9197, Université Paris Sud, CNRS, Université Paris Saclay, Orsay, France.
authors.forename: Cyrille
authors.initials: C
authors.lastname: Vaillend
authors.affiliation: Departamento de Genética y Biología Molecular, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional (CINVESTAV), Mexico City, Mexico. cecim@cinvestav.mx.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Montañez
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D001921:Brain / Q000378:metabolism*; D016189:Dystrophin / Q000378:metabolism*; D051379:Mice; D020033:Protein Isoforms / Q000378:metabolism*; D012160:Retina / Q000378:metabolism*; D013347:Subcellular Fractions / Q000378:metabolism
chemical_list: D016189:Dystrophin; D020033:Protein Isoforms
keywords: Alternative splicing; Brain and retina; Differential expression; Dp71 isoforms; Duchenne muscular dystrophy