Cobalamin F deficiency in a girl with severe skin hyperpigmentation and a homozygous LMBRD1 variant

Braz, Shélida Vasconcelos; Benicio, Rosenelle Araújo; Tonelli, Guilherme S.S.S.; Báo, Sônia Nair; Moretti, Patricia; Pic‐Taylor, Aline; Oliveira, Silviene Fabiana de; Acevedo, Ana Carolina; Costa, Izelda Maria Carvalho; Mazzeu, Juliana Forte

doi:10.1111/ced.15046

Cited by 2 publications

(1 citation statement)

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“…PPP1CB was shown to regulate actin filament polymerization and/or reorganization [189], regulating the distribution of pigment granules. Mutations in ABCD4 cause hyperpigmentation of the skin, leading to lighter hair color [190,191]. VSX2 affects human skin pigmentation [192] and is also a candidate gene for vertebrate retinal pigmentation [193,194].…”

Section: Genes Associated With Wool Colormentioning

confidence: 99%

Whole Genome Resequencing Reveals Selection Signals Related to Wool Color in Sheep

Zhang,

Jin,

et al. 2023

Animals

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Wool color is controlled by a variety of genes. Although the gene regulation of some wool colors has been studied in relative depth, there may still be unknown genetic variants and control genes for some colors or different breeds of wool that need to be identified and recognized by whole genome resequencing. Therefore, we used whole genome resequencing data to compare and analyze sheep populations of different breeds by population differentiation index and nucleotide diversity ratios (Fst and θπ ratio) as well as extended haplotype purity between populations (XP-EHH) to reveal selection signals related to wool coloration in sheep. Screening in the non-white wool color group (G1 vs. G2) yielded 365 candidate genes, among which PDE4B, GMDS, GATA1, RCOR1, MAPK4, SLC36A1, and PPP3CA were associated with the formation of non-white wool; an enrichment analysis of the candidate genes yielded 21 significant GO terms and 49 significant KEGG pathways (p < 0.05), among which 17 GO terms and 21 KEGG pathways were associated with the formation of non-white wool. Screening in the white wool color group (G2 vs. G1) yielded 214 candidate genes, including ABCD4, VSX2, ITCH, NNT, POLA1, IGF1R, HOXA10, and DAO, which were associated with the formation of white wool; an enrichment analysis of the candidate genes revealed 9 significant GO-enriched pathways and 19 significant KEGG pathways (p < 0.05), including 5 GO terms and 12 KEGG pathways associated with the formation of white wool. In addition to furthering our understanding of wool color genetics, this research is important for breeding purposes.

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