OMIA 002116-69293 : Coat colour, albinism, oculocutaneous, HPS5-related in Gasterosteus aculeatus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 614074

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2017

History: Miller and Hart (2017) reported "the discovery and characterization of a spontaneous threespine stickleback X-linked recessive albino mutation casper"

Mapping: Miller and Hart (2017) "mapped casper using high-throughput sequencing of genomic DNA from bulked casper mutants to a region of the stickleback X chromosome (chromosome 19) near the stickleback ortholog of Hermansky-Pudlak syndrome 5 (Hps5)"

Molecular basis: Miller and Hart (2017): "casper mutants have an insertion of a single nucleotide in the 6th exon of Hsp5, predicted to generate an early frameshift"

Clinical features: Miller and hart (2017) "discovered a single spontaneous mutant male stickleback displaying severe pigmentation defects. We named this mutation casper, and recovered the mutation in subsequent generations . . . . casper mutants display oculocutaneous hypopigmentation in unhatched embryos when pigment first becomes apparent, becoming readily apparent by seven days post fertilization (dpf) . . . . Mutants appear fully viable and fertile . . . . casper mutants display severely reduced melanization of their retinal pigment epithelium (RPE), the most obvious visible phenotype . . . . Additionally, sexually mature casper males displayed severely reduced pigmentation in their testes relative to their wild-type siblings . . . . Chromatophores are differentially affected in casper mutants. Beginning at the time of their first appearance (four dpf), melanophores in casper mutants are present, but display severe reductions in melanization relative to their wild-type siblings . . . . The silver pigmentation from iridophores appears absent from older casper fish . . . . The red erythrophores, which contain diet-supplied carotenoids . . . , were never observed in the throats of sexually mature casper mutant males."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
Hps5 Gasterosteus aculeatus - no genomic information (-..-) Hps5 Ensembl

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Coat colour, albinism, oculocutaneous, HPS5-related Hps5 casper insertion, small (<=20) "casper mutants have an insertion of a single nucleotide in the 6th exon of Hsp5, predicted to generate an early frameshift" 2017 28739598

Reference


2017 Miller, C.T., Hart, J.C. :
Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype. G3 (Bethesda) :, 2017. Pubmed reference: 28739598. DOI: 10.1534/g3.117.1125.

Edit History


  • Created by Frank Nicholas on 15 Aug 2017
  • Changed by Frank Nicholas on 15 Aug 2017