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  1. Article ; Online: Determining Photoreceptor Cell Identity: Rod Versus Cone Fate Governed by tbx2b Opposing nrl.

    Neil, Gavin J / Kluttig, Kaitlyn H / Allison, W Ted

    Investigative ophthalmology & visual science

    2024  Volume 65, Issue 1, Page(s) 39

    Abstract: Purpose: NRL is an influential transcription factor and central to animal modeling in ophthalmology. Disrupting NRL abrogates rod development and produces an excess of S-cones (also known as "UV cones" or "short-wavelength-sensitive1 [SWS1] cones"). ... ...

    Abstract Purpose: NRL is an influential transcription factor and central to animal modeling in ophthalmology. Disrupting NRL abrogates rod development and produces an excess of S-cones (also known as "UV cones" or "short-wavelength-sensitive1 [SWS1] cones"). Strikingly, mutations in zebrafish tbx2b produce the exact opposite phenotypes (excess rods and loss of SWS1 cones). We sought to define what genetic relationship exists, if any, between these transcription factors. We also infer whether these two phenotypes (altered rod abundance and altered SWS1 cone abundance) are independent versus inter-related.
    Methods: Zebrafish mutants were bred to disrupt nrl and tbx2b in concert. Rods and SWS1 cones were quantified and characterized at ultrastructural and transcriptional levels.
    Results: Considering single mutant zebrafish, we confirmed previously established phenotypes and noted that the number of rods lost in nrl-/- mutants is reflected by a concomitant increase in SWS1 cone abundance. The tbx2b-/- mutants present the opposite phenotype(s) but exhibit a similar trade-off in cell abundances, with lots of rods and a concomitant decrease in SWS1 cones. Double mutant nrl-/-;tbx2b-/- zebrafish recapitulate the nrl-/- mutant phenotype(s).
    Conclusions: The tbx2b is thought to be required for producing SWS1 cones in zebrafish, but this can be over-ridden when nrl is absent. Regarding the altered cell abundances observed in either tbx2b-/- or nrl-/- mutants, the alterations in rod and SWS1 cones appear to not be two separate phenotypes but are instead a single intertwined outcome. The tbx2b and nrl are in an epistatic relationship, with nrl phenotypes dominating, implying that tbx2b is upstream of nrl in photoreceptor cell fate determination.
    MeSH term(s) Animals ; Mutation ; Phenotype ; Retinal Cone Photoreceptor Cells ; Transcription Factors/genetics ; Zebrafish ; T-Box Domain Proteins ; Zebrafish Proteins/genetics
    Chemical Substances Transcription Factors ; tbx2b protein, zebrafish ; T-Box Domain Proteins ; Zebrafish Proteins
    Language English
    Publishing date 2024-01-23
    Publishing country United States
    Document type Journal Article
    ZDB-ID 391794-0
    ISSN 1552-5783 ; 0146-0404
    ISSN (online) 1552-5783
    ISSN 0146-0404
    DOI 10.1167/iovs.65.1.39
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 45: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (1.OG)
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  2. Article ; Online: Amyloid-β precursor protein mutant zebrafish exhibit seizure susceptibility that depends on prion protein.

    Kanyo, Richard / Leighton, Patricia L A / Neil, Gavin J / Locskai, Laszlo F / Allison, W Ted

    Experimental neurology

    2020  Volume 328, Page(s) 113283

    Abstract: It has been proposed that Amyloid β Precursor Protein (APP) might act as a rheostat controlling neuronal excitability, but mechanisms have remained untested. APP and its catabolite Aβ are known to impact upon synapse function and dysfunction via their ... ...

    Abstract It has been proposed that Amyloid β Precursor Protein (APP) might act as a rheostat controlling neuronal excitability, but mechanisms have remained untested. APP and its catabolite Aβ are known to impact upon synapse function and dysfunction via their interaction with the prion protein (PrP
    MeSH term(s) Amyloid beta-Protein Precursor/genetics ; Amyloid beta-Protein Precursor/metabolism ; Animals ; Disease Susceptibility/metabolism ; Mice ; Mutation ; Prion Proteins/metabolism ; Seizures/genetics ; Seizures/metabolism ; Zebrafish
    Chemical Substances Amyloid beta-Protein Precursor ; Prion Proteins
    Language English
    Publishing date 2020-03-09
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 207148-4
    ISSN 1090-2430 ; 0014-4886
    ISSN (online) 1090-2430
    ISSN 0014-4886
    DOI 10.1016/j.expneurol.2020.113283
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 184: Show issues Location:
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  3. Article ; Online: Nrl Is Dispensable for Specification of Rod Photoreceptors in Adult Zebrafish Despite Its Deeply Conserved Requirement Earlier in Ontogeny.

    Oel, A Phillip / Neil, Gavin J / Dong, Emily M / Balay, Spencer D / Collett, Keon / Allison, W Ted

    iScience

    2020  Volume 23, Issue 12, Page(s) 101805

    Abstract: The transcription factor NRL (neural retina leucine zipper) has been canonized as the master regulator of photoreceptor cell fate in the retina. NRL is necessary and sufficient to specify rod cell fate and to preclude cone cell fate in mice. By ... ...

    Abstract The transcription factor NRL (neural retina leucine zipper) has been canonized as the master regulator of photoreceptor cell fate in the retina. NRL is necessary and sufficient to specify rod cell fate and to preclude cone cell fate in mice. By engineering zebrafish, we tested if NRL function has conserved roles beyond mammals or beyond nocturnal species, i.e., in a vertebrate possessing a greater and more typical diversity of cone sub-types. Transgenic expression of Nrl from zebrafish or mouse was sufficient to induce rod photoreceptor cells. Zebrafish
    Language English
    Publishing date 2020-11-15
    Publishing country United States
    Document type Journal Article
    ISSN 2589-0042
    ISSN (online) 2589-0042
    DOI 10.1016/j.isci.2020.101805
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Prion gene paralogs are dispensable for early zebrafish development and have nonadditive roles in seizure susceptibility.

    Leighton, Patricia L A / Kanyo, Richard / Neil, Gavin J / Pollock, Niall M / Allison, W Ted

    The Journal of biological chemistry

    2018  Volume 293, Issue 32, Page(s) 12576–12592

    Abstract: Normally folded prion protein ( ... ...

    Abstract Normally folded prion protein (PrP
    MeSH term(s) Animals ; Animals, Genetically Modified/genetics ; Animals, Genetically Modified/growth & development ; Gene Expression Regulation, Developmental ; Mutation ; Neurogenesis/genetics ; Phenotype ; Prion Diseases/physiopathology ; Prion Proteins/genetics ; Seizures/physiopathology ; Zebrafish/genetics ; Zebrafish/growth & development
    Chemical Substances Prion Proteins
    Language English
    Publishing date 2018-06-14
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2997-x
    ISSN 1083-351X ; 0021-9258
    ISSN (online) 1083-351X
    ISSN 0021-9258
    DOI 10.1074/jbc.RA117.001171
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Uc I Zs.108: Show issues Location:
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  5. Article ; Online: Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma.

    Lahola-Chomiak, Adrian A / Footz, Tim / Nguyen-Phuoc, Kim / Neil, Gavin J / Fan, Baojian / Allen, Keri F / Greenfield, David S / Parrish, Richard K / Linkroum, Kevin / Pasquale, Louis R / Leonhardt, Ralf M / Ritch, Robert / Javadiyan, Shari / Craig, Jamie E / Allison, W T / Lehmann, Ordan J / Walter, Michael A / Wiggs, Janey L

    Human molecular genetics

    2018  Volume 28, Issue 8, Page(s) 1298–1311

    Abstract: Pigmentary glaucoma (PG) is a common glaucoma subtype that results from release of pigment from the iris, called pigment dispersion syndrome (PDS), and its deposition throughout the anterior chamber of the eye. Although PG has a substantial heritable ... ...

    Abstract Pigmentary glaucoma (PG) is a common glaucoma subtype that results from release of pigment from the iris, called pigment dispersion syndrome (PDS), and its deposition throughout the anterior chamber of the eye. Although PG has a substantial heritable component, no causative genes have yet been identified. We used whole exome sequencing of two independent pedigrees to identify two premelanosome protein (PMEL) variants associated with heritable PDS/PG. PMEL encodes a key component of the melanosome, the organelle essential for melanin synthesis, storage and transport. Targeted screening of PMEL in three independent cohorts (n = 394) identified seven additional PDS/PG-associated non-synonymous variants. Five of the nine variants exhibited defective processing of the PMEL protein. In addition, analysis of PDS/PG-associated PMEL variants expressed in HeLa cells revealed structural changes to pseudomelanosomes indicating altered amyloid fibril formation in five of the nine variants. Introduction of 11-base pair deletions to the homologous pmela in zebrafish by the clustered regularly interspaced short palindromic repeats (CRISPR)-Cas9 method caused profound pigmentation defects and enlarged anterior segments in the eye, further supporting PMEL's role in ocular pigmentation and function. Taken together, these data support a model in which missense PMEL variants represent dominant negative mutations that impair the ability of PMEL to form functional amyloid fibrils. While PMEL mutations have previously been shown to cause pigmentation and ocular defects in animals, this research is the first report of mutations in PMEL causing human disease.
    MeSH term(s) Adult ; Amyloid/metabolism ; Animals ; Female ; Glaucoma, Open-Angle/genetics ; HeLa Cells ; Humans ; Iris/metabolism ; Male ; Melanosomes/genetics ; Middle Aged ; Mutation, Missense/genetics ; Pedigree ; Pigmentation/genetics ; Whole Exome Sequencing/methods ; Young Adult ; Zebrafish ; gp100 Melanoma Antigen/genetics ; gp100 Melanoma Antigen/physiology
    Chemical Substances Amyloid ; PMEL protein, human ; gp100 Melanoma Antigen
    Language English
    Publishing date 2018-12-18
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1108742-0
    ISSN 1460-2083 ; 0964-6906
    ISSN (online) 1460-2083
    ISSN 0964-6906
    DOI 10.1093/hmg/ddy429
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 3469: Show issues Location:
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