Discovery of copy number variants by multiplex amplifiable probe hybridization (MAPH) in candidate pigmentation genes

López, Saioa; García, Iker; Smith, Isabel M.; Sevilla, Arrate; Izagirre, Neskuts; Rúa, Concepción de la; Alonso, Santos

doi:10.3109/03014460.2014.965202

Cited by 2 publications

(1 citation statement)

References 55 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…No deviations from neutrality were detected in any population for the MIF gene (data not shown). However, we should take into account that MIF is embedded in a CNV [ 63 ] and in a previous work we observed how a variation in copy number can interfere with neutrality tests by altering the frequencies of polymorphisms leading to an excess of detected homozygosity [ 64 ]. A loss of copies would result in apparent homozygosity, and duplications of one allele would mask possible variant alleles in sequencing or genotyping experiments.…”

Section: Resultsmentioning

confidence: 99%

Comparison of the Transcriptional Profiles of Melanocytes from Dark and Light Skinned Individuals under Basal Conditions and Following Ultraviolet-B Irradiation

et al. 2015

Self Cite

View full text Add to dashboard Cite

We analysed the whole-genome transcriptional profile of 6 cell lines of dark melanocytes (DM) and 6 of light melanocytes (LM) at basal conditions and after ultraviolet-B (UVB) radiation at different time points to investigate the mechanisms by which melanocytes protect human skin from the damaging effects of UVB. Further, we assessed the effect of different keratinocyte-conditioned media (KCM+ and KCM-) on melanocytes. Our results suggest that an interaction between ribosomal proteins and the P53 signaling pathway may occur in response to UVB in both DM and LM. We also observed that DM and LM show differentially expressed genes after irradiation, in particular at the first 6h after UVB. These are mainly associated with inflammatory reactions, cell survival or melanoma. Furthermore, the culture with KCM+ compared with KCM- had a noticeable effect on LM. This effect includes the activation of various signaling pathways such as the mTOR pathway, involved in the regulation of cell metabolism, growth, proliferation and survival. Finally, the comparison of the transcriptional profiles between LM and DM under basal conditions, and the application of natural selection tests in human populations allowed us to support the significant evolutionary role of MIF and ATP6V0B in the pigmentary phenotype.

show abstract

Section: Resultsmentioning

confidence: 99%

Comparison of the Transcriptional Profiles of Melanocytes from Dark and Light Skinned Individuals under Basal Conditions and Following Ultraviolet-B Irradiation

et al. 2015

Self Cite

View full text Add to dashboard Cite

show abstract

Copy number variation of MYLK4 gene and its growth traits of Capra hircus (goat)

Shi

Zhang

et al. 2019

Animal Biotechnology

View full text Add to dashboard Cite

Discovery of copy number variants by multiplex amplifiable probe hybridization (MAPH) in candidate pigmentation genes

Abstract: Although the functional role of these structural variants in pigmentation should be the subject of future work, the results emphasize the need to consider all classes of variation (both SNPs and CNVs) when exploring the genetics of skin pigmentation.

Cited by 2 publications

References 55 publications

Comparison of the Transcriptional Profiles of Melanocytes from Dark and Light Skinned Individuals under Basal Conditions and Following Ultraviolet-B Irradiation

Comparison of the Transcriptional Profiles of Melanocytes from Dark and Light Skinned Individuals under Basal Conditions and Following Ultraviolet-B Irradiation

Copy number variation of MYLK4 gene and its growth traits of Capra hircus (goat)

Contact Info

Product

Resources

About