A novel nonsense mutation in the tyrosinase gene is related to the albinism in a capuchin monkey (Sapajus apella)

Vasconcelos, Felipe Tadeu Galante Rocha de; Hauzman, Einat; Henriques, Leonardo Dutra; Goulart, Paulo Roney Kilpp; Galvão, Olavo de Faria; Sano, Ronaldo Yuiti; Souza, Givago da Silva; Lynch, Jessica W.; Silveira, Lima; Ventura, Dora Fix; Bonci, Daniela Maria Oliveira

doi:10.1186/s12863-017-0504-8

Cited by 13 publications

(6 citation statements)

References 37 publications

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“…Albinism happens among different living things varying from human beings, animals as well as higher plants (33)(34)(35). In this study, some albino seedlings were observed in the progenies from a selfpollinated cucumber fruit during the breeding selection period of an inbred line named g32.…”

Section: Discussionmentioning

confidence: 70%

A novel cucumber albino mutant caused by chloroplast development deficiency

Yan

Liu

Cao

et al. 2020

Preprint

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Background Photosynthesis is a fundamental process for plant growth and development dependent on a precise network, including formation of chloroplast and chlorophyll synthesis. Chloroplast development deficiency could lead to albinism in higher plant. Results Here, we report a cucumber albino recessive mutant that processed white cotyledons under light condition and is unable to produce first true leaf. Meanwhile, albino mutant could grow out creamy green cotyledons under dark condition but died after exposing to light. Using fluorescence microscopy and transmission electron microscope (TEM), impaired chloroplasts were observed. We identified 7 and 3 differentially expressed genes (DEG) involved in Chlorophyll metabolism and Methylerythritol 4-phosphate (MEP) pathway through transcriptome analysis, respectively. We also examined the reported homologous genes for albino mutants from other plants. Two of 12 genes, TOC159 and DXS1, were up-regulated in cucumber albino mutants as well. The reliability of RNA sequencing results were further confirmed by real-time quantitative PCR (qPCR). Conclusions Taken together, we elaborate the differences between albino mutant and normal seedlings from a single cucumber progeny. This mutant is a new material to study protoplast development.

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Section: Discussionmentioning

confidence: 70%

A novel cucumber albino mutant caused by chloroplast development deficiency

Yan

Liu

Cao

et al. 2020

Preprint

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“…Albinism occurs among different living organisms ranging from human beings to animals as well as higher plants ( Kamaraj and Purohit, 2014 ; Galante Rocha de Vasconcelos et al., 2017 ; Le Ret et al., 2018 ). In the present study, some albino seedlings were observed in the progenies of a self-pollinated cucumber fruit during seed increase period of a cucumber inbred line named “g32”.…”

Section: Discussionmentioning

confidence: 99%

Cytological, genetic and transcriptomic characterization of a cucumber albino mutant

et al. 2022

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Photosynthesis, a fundamental process for plant growth and development, is dependent on chloroplast formation and chlorophyll synthesis. Severe disruption of chloroplast structure results in albinism of higher plants. In the present study, we report a cucumber albino alc mutant that presented white cotyledons under normal light conditions and was unable to produce first true leaf. Meanwhile, alc mutant could grow creamy green cotyledons under dim light conditions but died after exposure to normal light irradiation. No chlorophyll and carotenoid were detected in the alc mutant grown under normal light conditions. Using transmission electron microscopy, impaired chloroplasts were observed in this mutant. The genetic analysis indicated that the albino phenotype was recessively controlled by a single locus. Comparative transcriptomic analysis between the alc mutant and wild type revealed that genes involved in chlorophyll metabolism and the methylerythritol 4-phosphate pathway were affected in the alc mutant. In addition, three genes involved in chloroplast development, including two FtsH genes and one PPR gene, were found to have negligible expression in this mutant. The quality of RNA sequencing results was further confirmed by real-time quantitative PCR analysis. We also examined 12 homologous genes from alc mutant in other plant species, but no genetic variation in the coding sequences of these genes was found between alc mutant and wild type. Taken together, we characterized a cucumber albino mutant with albinism phenotype caused by chloroplast development deficiency and this mutant can pave way for future studies on plastid development.

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“…Chicken [39][40][41] Ungulates Water buffalo [42], Cattle [43], Red deer [44], Asinara donkey [45] Rodents House mouse [46], Wistar rat [47], Domestic guinea pig [48] Primates Crab-eating macaque [49], Capuchin monkey [50], Hamadryas baboon [51], Human [reviewed in 52]…”

Section: Fishmentioning

confidence: 99%

A community-science approach identifies genetic variants associated with three color morphs in ball pythons (Python regius)

Brown

K²,

D³

et al. 2022

PLoS ONE

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Color morphs in ball pythons (Python regius) provide a unique and largely untapped resource for understanding the genetics of coloration in reptiles. Here we use a community-science approach to investigate the genetics of three color morphs affecting production of the pigment melanin. These morphs—Albino, Lavender Albino, and Ultramel—show a loss of melanin in the skin and eyes, ranging from severe (Albino) to moderate (Lavender Albino) to mild (Ultramel). To identify genetic variants causing each morph, we recruited shed skins of pet ball pythons via social media, extracted DNA from the skins, and searched for putative loss-of-function variants in homologs of genes controlling melanin production in other vertebrates. We report that the Albino morph is associated with missense and non-coding variants in the gene TYR. The Lavender Albino morph is associated with a deletion in the gene OCA2. The Ultramel morph is associated with a missense variant and a putative deletion in the gene TYRP1. Our study is one of the first to identify genetic variants associated with color morphs in ball pythons and shows that pet samples recruited from the community can provide a resource for genetic studies in this species.

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A novel nonsense mutation in the tyrosinase gene is related to the albinism in a capuchin monkey (Sapajus apella)

Cited by 13 publications

References 37 publications

A novel cucumber albino mutant caused by chloroplast development deficiency

A novel cucumber albino mutant caused by chloroplast development deficiency

Cytological, genetic and transcriptomic characterization of a cucumber albino mutant

A community-science approach identifies genetic variants associated with three color morphs in ball pythons (Python regius)

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