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Full-Text Articles in Life Sciences

Standing Genetic Variation As A Potential Mechanism Of Novel Cave Phenotype Evolution In The Freshwater Isopod, Asellus Aquaticus, Lizet R. Rodas, Serban M. Sarbu, Raluca Bancila, Devon Price, Žiga Fišer, Meredith E. Protas Feb 2023

Standing Genetic Variation As A Potential Mechanism Of Novel Cave Phenotype Evolution In The Freshwater Isopod, Asellus Aquaticus, Lizet R. Rodas, Serban M. Sarbu, Raluca Bancila, Devon Price, Žiga Fišer, Meredith E. Protas

Natural Sciences and Mathematics | Faculty Scholarship

Novel phenotypes can come about through a variety of mechanisms including standing genetic variation from a founding population. Cave animals are an excellent system in which to study the evolution of novel phenotypes such as loss of pigmentation and eyes. Asellus aquaticus is a freshwater isopod crustacean found in Europe and has both a surface and a cave ecomorph which vary in multiple phenotypic traits. An orange eye phenotype was previously revealed by F2 crosses and backcrosses to the cave parent within two examined Slovenian cave populations. Complete loss of pigmentation, both in eye and body, is epistatic to the …


Embryonic Origin And Genetic Basis Of Cave Associated Phenotypes In The Isopod Crustacean Asellus Aquaticus., Hafasa Mojaddidi, Franco Fernandez, Priscilla A. Erickson, Meredith E. Protas Nov 2018

Embryonic Origin And Genetic Basis Of Cave Associated Phenotypes In The Isopod Crustacean Asellus Aquaticus., Hafasa Mojaddidi, Franco Fernandez, Priscilla A. Erickson, Meredith E. Protas

Natural Sciences and Mathematics | Faculty Scholarship

Characteristics common to animals living in subterranean environments include the reduction or absence of eyes, lessened pigmentation and enhanced sensory systems. How these characteristics have evolved is poorly understood for the majority of cave dwelling species. In order to understand the evolution of these changes, this study uses an invertebrate model system, the freshwater isopod crustacean, Asellus aquaticus, to examine whether adult differences between cave and surface dwelling individuals first appear during embryonic development. We hypothesized that antennal elaboration, as well as eye reduction and pigment loss, would be apparent during embryonic development. We found that differences in pigmentation, eye …


Mutations Of Conserved Non-Coding Elements Of Pitx2 In Patients With Ocular Dysgenesis And Developmental Glaucoma., Meredith E. Protas, Eric Weh, Tim Footz, Jay Kasberger, Scott C. Baraban, Alex V. Levin, L. Jay Katz, Robert Ritch, Michael A. Walter, Elena V. Semina, Douglas B. Gould Sep 2017

Mutations Of Conserved Non-Coding Elements Of Pitx2 In Patients With Ocular Dysgenesis And Developmental Glaucoma., Meredith E. Protas, Eric Weh, Tim Footz, Jay Kasberger, Scott C. Baraban, Alex V. Levin, L. Jay Katz, Robert Ritch, Michael A. Walter, Elena V. Semina, Douglas B. Gould

Natural Sciences and Mathematics | Faculty Scholarship

Mutations in FOXC1 and PITX2 constitute the most common causes of ocular anterior segment dysgenesis (ASD), and confer a high risk for secondary glaucoma. The genetic causes underlying ASD in approximately half of patients remain unknown, despite many of them being screened by whole exome sequencing. Here, we performed whole genome sequencing on DNA from two affected individuals from a family with dominantly inherited ASD and glaucoma to identify a 748-kb deletion in a gene desert that contains conserved putative PITX2 regulatory elements. We used CRISPR/Cas9 to delete the orthologous region in zebrafish in order to test the pathogenicity of …