What is a vertebrate pigment cell?

Schartl, Manfred; Larue, Lionel; Goda, Makoto; Bosenberg, Marcus W.; Hashimoto, Hisashi; Kelsh, Robert N.

doi:10.1111/pcmr.12409

Cited by 115 publications

(118 citation statements)

References 30 publications

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“…Coat color depends on the presence of pigment cells. In mammals, melanin-synthesizing melanocytes, which occupy the skin and hair follicles throughout the entire body surface, are responsible for pigmentation [1]. During embryonic development melanocytes are formed from melanoblasts, which originate in the neural crest and migrate through the developing embryo in order to reach their final position on the body [2].…”

Section: Introductionmentioning

confidence: 99%

A structural variant in the 5’-flanking region of the TWIST2 gene affects melanocyte development in belted cattle

et al. 2017

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Belted cattle have a circular belt of unpigmented hair and skin around their midsection. The belt is inherited as a monogenic autosomal dominant trait. We mapped the causative variant to a 37 kb segment on bovine chromosome 3. Whole genome sequence data of 2 belted and 130 control cattle yielded only one private genetic variant in the critical interval in the two belted animals. The belt-associated variant was a copy number variant (CNV) involving the quadruplication of a 6 kb non-coding sequence located approximately 16 kb upstream of the TWIST2 gene. Increased copy numbers at this CNV were strongly associated with the belt phenotype in a cohort of 333 cases and 1322 controls. We hypothesized that the CNV causes aberrant expression of TWIST2 during neural crest development, which might negatively affect melanoblasts. Functional studies showed that ectopic expression of bovine TWIST2 in neural crest in transgenic zebrafish led to a decrease in melanocyte numbers. Our results thus implicate an unsuspected involvement of TWIST2 in regulating pigmentation and reveal a non-coding CNV underlying a captivating Mendelian character.

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Section: Introductionmentioning

confidence: 99%

A structural variant in the 5’-flanking region of the TWIST2 gene affects melanocyte development in belted cattle

et al. 2017

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“…For a detailed description of the genotypes used in this study, see and (Regneri & Schartl, ). Nomenclature of pigment cells and pigment cell tumors is according to (Schartl et al., ). For mRNA and protein expression analyses, melanocyte spots (composed of so‐called macromelanophores) and benign pigment cell lesions were carefully excised from the dorsal and caudal fins to minimize contamination of the samples with normal tissue.…”

Section: Methodsmentioning

confidence: 99%

Analysis of the putative tumor suppressor gene cdkn2ab in pigment cells and melanoma of Xiphophorus and medaka

Regneri

Klotz

Wilde

et al. 2018

Pigment Cell Melanoma Res

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In humans, the CDKN2A locus encodes two transcripts, INK4A and ARF. Inactivation of either one by mutations or epigenetic changes is a frequent signature of malignant melanoma and one of the most relevant entry points for melanomagenesis. To analyze whether cdkn2ab, the fish ortholog of CDKN2A, has a similar function as its human counterpart, we studied its action in fish models for human melanoma. Overexpression of cdkn2ab in a Xiphophorus melanoma cell line led to decreased proliferation and induction of a senescence-like phenotype, indicating a melanoma-suppressive function analogous to mammals. Coexpression of Xiphophorus cdkn2ab in medaka transgenic for the mitfa:xmrk melanoma-inducing gene resulted in full suppression of melanoma development, whereas CRISPR/Cas9 knockout of cdkn2ab resulted in strongly enhanced tumor growth. In summary, this provides the first functional evidence that cdkn2ab acts as a potent tumor suppressor gene in fish melanoma models.

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“…To date, over 190 vertebrate pigment genes have been classified (e.g. Lorin et al, 2018), including those involved in the most extensively studied of the vertebrate chromatophores, the melanophores (also referred to as melanocytes) (Schartl et al, 2015). For example, genes involved in the melanocortin system play an important role in fish pigmentation (reviewed in Cal et al, 2017).…”

Section: Possible Mechanisms For Spectral Changes In Chromatic Colourmentioning

confidence: 99%

Colour pattern component phenotypic divergence can be predicted by the light environment

Kranz

Cole

Singh

et al. 2018

J of Evolutionary Biology

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The sensory drive hypothesis predicts that across different light environments sexually selected colour patterns will change to increase an animal's visual communication efficiency within different habitats. This is because individuals with more efficient signal components are likely to have more successful matings and hence produce more offspring. However, how colour pattern signals change over multiple generations under different light environmental conditions has not been tested experimentally. Here, we manipulated colour pattern signal efficiency by providing different ambient light environments over multiple generations to examine whether male colour pattern components change within large replicated populations of guppies (Poecilia reticulata). We report that colour patches change within populations over time and are phenotypically different among our three different light environments. Visual modelling suggests that the majority of these changes can be understood by considering the chroma, hue and luminance of each colour patch as seen by female guppies under each light environment. Taken together, our results support the hypothesis that different environmental conditions during signal reception can directly or indirectly drive the phenotypic diversification of visual signals within species.

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What is a vertebrate pigment cell?

Cited by 115 publications

References 30 publications

A structural variant in the 5’-flanking region of the TWIST2 gene affects melanocyte development in belted cattle

A structural variant in the 5’-flanking region of the TWIST2 gene affects melanocyte development in belted cattle

Analysis of the putative tumor suppressor gene cdkn2ab in pigment cells and melanoma of Xiphophorus and medaka

Colour pattern component phenotypic divergence can be predicted by the light environment

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