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  • 1.
    Collantes, Edward Ryan A.
    et al.
    Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, United States; Department of Ophthalmology, Manila Doctors Hospital, Manila, Philippines.
    Delfin, Manuel S.
    Department of Ophthalmology, Manila Doctors Hospital, Manila, Philippines.
    Fan, Baojian
    Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, United States.
    Torregosa, Justine May R.
    Department of Ophthalmology, Cebu Institute of Medicine, Cebu Velez General Hospital, Cebu City, Philippines.
    Siguan-Bell, Christine
    Department of Ophthalmology, Cebu Institute of Medicine, Cebu Velez General Hospital, Cebu City, Philippines.
    Florcruz, Nilo Vincent de Guzman
    Department of Ophthalmology and Visual Sciences, University of the Philippines-Philippine General Hospital, Manila, Philippines; Glaucoma Service, Department of Ophthalmology, East Avenue Medical Center, Quezon City, Philippines.
    Martinez, Jose Maria D.
    Glaucoma Service, Department of Ophthalmology, East Avenue Medical Center, Quezon City, Philippines.
    Masna-Hidalgo, Barbara Joy
    Department of Ophthalmology, Western Visayas Medical Center, Iloilo City, Philippines.
    Guzman, Vincent Paul T.
    Department of Ophthalmology, Western Visayas Medical Center, Iloilo City, Philippines.
    Anotado-Flores, Jewel Faith
    Department of Ophthalmology, Western Visayas Medical Center, Iloilo City, Philippines.
    Levina, Faye D.
    Department of Ophthalmology, Jose R. Reyes Memorial Medical Center, Manila, Philippines.
    Hernandez, Sophia Raine C.
    Umeå University, Faculty of Medicine, Department of Molecular Biology (Faculty of Medicine).
    Collantes, Anthony A.
    Department of Biochemistry, College of Medicine, Our Lady of Fatima University, Valenzuela, Philippines.
    Sibulo, Michael Carreon
    Eye Institute, St. Luke's Medical Center, Quezon City, Philippines.
    Rong, Shisong
    Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, United States.
    Wiggs, Janey L.
    Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, United States.
    EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma2022In: Human Mutation, ISSN 1059-7794, E-ISSN 1098-1004, Vol. 43, no 2, p. 240-252Article in journal (Refereed)
    Abstract [en]

    Juvenile open-angle glaucoma (JOAG) is a severe type of glaucoma with onset before age 40 and dominant inheritance. Using exome sequencing we identified 3 independent families from the Philippines with novel EFEMP1 variants (c.238A>T, p.Asn80Tyr; c.1480T>C, p.Ter494Glnext*29; and c.1429C>T, p.Arg477Cys) co-segregating with disease. Affected variant carriers (N = 34) exhibited severe disease with average age of onset of 16 years and with 76% developing blindness. To investigate functional effects, we transfected COS7 cells with vectors expressing the three novel EFEMP1 variants and showed that all three variants found in JOAG patients caused significant intracellular protein aggregation and retention compared to wild type and also compared to EFEMP1 variants associated with other ocular phenotypes including an early-onset form of macular degeneration, Malattia Leventinese/Doyne's Honeycomb retinal dystrophy. These results suggest that rare EFEMP1 coding variants can cause JOAG through a mechanism involving protein aggregation and retention, and that the extent of intracellular retention correlates with disease phenotype. This is the first report of EFEMP1 variants causing JOAG, expanding the EFEMP1 disease spectrum. Our results suggest that EFEMP1 mutations appear to be a relatively common cause of JOAG in Filipino families, an ethnically diverse population.

  • 2.
    Ishizaki, Takahiro
    et al.
    Umeå University, Faculty of Medicine, Department of Molecular Biology (Faculty of Medicine). Umeå University, Faculty of Medicine, Molecular Infection Medicine Sweden (MIMS).
    Hernandez, Sophia
    Umeå University, Faculty of Medicine, Department of Molecular Biology (Faculty of Medicine). Umeå University, Faculty of Medicine, Molecular Infection Medicine Sweden (MIMS).
    Paoletta, Martina S.
    Umeå University, Faculty of Medicine, Department of Molecular Biology (Faculty of Medicine). Umeå University, Faculty of Medicine, Molecular Infection Medicine Sweden (MIMS). Instituto de Agrobiotecnología y Biología Molecular (IABIMO), Argentina.
    Sanderson, Theo
    Francis Crick Institute London, United Kingdom.
    Bushell, Ellen
    Umeå University, Faculty of Medicine, Department of Molecular Biology (Faculty of Medicine). Umeå University, Faculty of Medicine, Molecular Infection Medicine Sweden (MIMS).
    CRISPR/Cas9 and genetic screens in malaria parasites: small genomes, big impact2022In: Biochemical Society Transactions, ISSN 0300-5127, E-ISSN 1470-8752, Vol. 50, no 3, p. 1069-1079Article, review/survey (Refereed)
    Abstract [en]

    The ∼30 Mb genomes of the Plasmodium parasites that cause malaria each encode ∼5000 genes, but the functions of the majority remain unknown. This is due to a paucity of functional annotation from sequence homology, which is compounded by low genetic tractability compared with many model organisms. In recent years technical breakthroughs have made forward and reverse genome-scale screens in Plasmodium possible. Furthermore, the adaptation of Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) and CRISPR-Associated protein 9 (CRISPR/Cas9) technology has dramatically improved gene editing efficiency at the single gene level. Here, we review the arrival of genetic screens in malaria parasites to analyse parasite gene function at a genome-scale and their impact on understanding parasite biology. CRISPR/Cas9 screens, which have revolutionised human and model organism research, have not yet been implemented in malaria parasites due to the need for more complex CRISPR/Cas9 gene targeting vector libraries. We therefore introduce the reader to CRISPR-based screens in the related apicomplexan Toxoplasma gondii and discuss how these approaches could be adapted to develop CRISPR/Cas9 based genome-scale genetic screens in malaria parasites. Moreover, since more than half of Plasmodium genes are required for normal asexual blood-stage reproduction, and cannot be targeted using knockout methods, we discuss how CRISPR/Cas9 could be used to scale up conditional gene knockdown approaches to systematically assign function to essential genes.

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