Isabelline coloration: a heretofore unrecognized chromatic aberration in bighorn sheep DOI Creative Commons
Vernon C. Bleich

California Fish and Wildlife Journal, Journal Year: 2024, Volume and Issue: 110(2)

Published: June 6, 2024

Coloration is among the characteristics noted first by observers, and color has a strong influence on how animals are perceived. Abnormal coloration been reported in variety of taxa, but less frequently mammals than other classes vertebrates. Chromatic disorders occurring Mammalia include albinism, leucism, piebaldism, melanism, xanthism, erythrism, isabellinism, only piebaldism have confirmed bighorn sheep (Ovis canadensis); ‘albinism’ that taxon, absence confirmatory evidence. Bighorn possessing white, or extremely light-colored pelage, described literature as albinistic, leucistic, simply ‘white’. Isabellinism genetic anomaly manifests sandy- cream-colored pelage appears washed-out otherwise would be dark color. Some reports ‘white’ sheep, however, likely represent were isabelline coloration. This paper to ascribe this unusual morph I (1) provide photographs, references, evidence what isabellinism species; (2) explain why those observing failed recognize coloration; (3) discuss evolutionary consequences anomalous condition terms fitness future adaptation; (4) emphasize role may appear meaningless observations their potential ramifications for understanding explaining phenomena heretofore not fully explored; (5) encourage readers natural history potentially important implications interpretation adaptation selection, can new insight into prior conclusions applications.

Language: Английский

A genome-wide genetic screen uncovers determinants of human pigmentation DOI
Vivek K. Bajpai, Tomek Swigut, Jaaved Mohammed

et al.

Science, Journal Year: 2023, Volume and Issue: 381(6658)

Published: Aug. 10, 2023

Skin color, one of the most diverse human traits, is determined by quantity, type, and distribution melanin. In this study, we leveraged light-scattering properties melanin to conduct a genome-wide screen for regulators melanogenesis. We identified 169 functionally genes that converge on melanosome biogenesis, endosomal transport, gene regulation, which 135 represented previously unknown associations with pigmentation. agreement their melanin-promoting function, majority hits were up-regulated in melanocytes from darkly pigmented individuals. further unraveled functions KLF6 as transcription factor regulates maturation pigmentation vivo, trafficking protein COMMD3 modulating melanosomal pH. Our study reveals plethora genes, broad implications variation, cell biology, medicine.

Language: Английский

Citations

21
Biology of melanocytes in mammals DOI Creative Commons

Ying-Zhe Cui,

Xiao‐Yong Man

Frontiers in Cell and Developmental Biology, Journal Year: 2023, Volume and Issue: 11

Published: Nov. 22, 2023

Melanocytes, which originate from the neuroectoderm, are specialized cells responsible for producing pigments and possessing a dendritic morphology. These migrate to epidermis follicles, contributing skin hair pigmentation during embryonic development. The remarkable self-renewal capacity of melanocytes enables them effectively restore pigmentation. synthesis melanin safeguard against damage caused by ultraviolet radiation, as well enigmatic immune function melanocytes, demonstrate their indispensable contributions maintaining cutaneous homeostasis. regulation involves an intricate network influenced intrinsic cellular signals within extracellular cues. Therefore, this paper provides comprehensive review role in biology. This in-depth analysis could open novel avenues research aimed at prevention treatment disorders.

Language: Английский

Citations

17
Skin colour: A window into human phenotypic evolution and environmental adaptation DOI
Jiuming Liu,

Habtom K. Bitsue,

Zhaohui Yang

et al.

Molecular Ecology, Journal Year: 2024, Volume and Issue: 33(12)

Published: May 7, 2024

As modern humans ventured out of Africa and dispersed around the world, they faced novel environmental challenges that led to geographic adaptations including skin colour. Over long history human evolution, colour has changed dramatically, showing tremendous diversity across different geographical regions, for example, majority individuals from expansive lands have darker skin, whereas people Eurasia exhibit lighter skin. What did confer upon as migrated Eurasia? genetic mechanisms underlie observed in populations? In recent years, scientists gradually gained a deeper understanding interactions between pigmentation gene through population-based genomic studies groups particularly East Asia Africa. this review, we summarize our current 26 colour-related genes 48 SNPs influence Important three major populations are described detail: MFSD12, SLC24A5, PDPK1 DDB1/CYB561A3/TMEM138 African populations; OCA2, KITLG, SLC24A2, GNPAT PAH key evolution Asian SLC45A2, TYR, TYRP1, ASIP, MC1R IRF4 significantly contribute lightening European populations. We summarized findings implicate diverse environments, local adaptation among populations, flow multi-gene factors influencing diversity.

Language: Английский

Citations

7
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder DOI Creative Commons
Andrea Accogli, Young Nyun Park, Guy M. Lenk

et al.

Genetics in Medicine, Journal Year: 2024, Volume and Issue: 26(5), P. 101097 - 101097

Published: Feb. 6, 2024

Purpose: Pathogenic variants of FIG4 generate enlarged lysosomes and neurological developmental disorders.To identify additional genes regulating lysosomal volume, we carried out a genome-wide activation screen to detect suppression in -/- cells. Methods:The CRISPR-a gene utilized sgRNAs from the promoters protein coding genes.Fluorescence-activated cell sorting separated cells with correction uncorrected cells.Patient SLC12A9 were identified by exome or genome sequencing studied segregation analysis clinical characterization.Results: Overexpression SLC12A9, solute co-transporter, corrected swelling -/-cells.SLC12A9 (NP_064631.2) co-localized LAMP2 at lysosome membrane.Biallelic three unrelated probands neurodevelopmental disorders.Common features included intellectual disability, skeletal brain structural abnormalities, congenital heart defects hypopigmented hair.Patient 1 was homozygous for nonsense variant p.(Arg615*); patient 2 compound heterozygous p.(Ser109Lysfs*20) large deletion, proband 3 p.(Glu290Glyfs*36) p.(Asn552Lys).Fibroblasts contained that wildtype cDNA.Patient p.(Asn552Lys) failed correct defect.Conclusions.Impaired function results recessive disorder recognizable phenotype.

Language: Английский

Citations

5
A single-cell transcriptome atlas of Lueyang black-bone chicken skin DOI Creative Commons
Ling Wang,

Zhen Xue,

Yingmin Tian

et al.

Poultry Science, Journal Year: 2024, Volume and Issue: 103(4), P. 103513 - 103513

Published: Feb. 2, 2024

As the largest organ of body, skin participates in various physiological activities, such as barrier function, sensory and temperature regulation, thereby maintaining balance between body natural environment. To date, compositional transcriptional profiles chicken cells have not been reported. Here, we report detailed transcriptome analyses cell populations present a black-feather white-feather using single-cell RNA sequencing (scRNA-seq). By analyzing cluster-specific gene expression profiles, identified 12 clusters, their corresponding types were also characterized. Subsequently, characterized subpopulations keratinocytes, myocytes, mesenchymal cells, fibroblasts, melanocytes. It is worth noting that subpopulation keratinocytes involved pigment granule capture melanocytes deposition, both which higher abundance compared to chicken. Meanwhile, cellular heterogeneity features Lueyang black-bone with different feather colors. In addition, screened out genes those could be potential markers Finally, validated specific SGK1, WNT5A, CTSC, TYR, LAPTM5 chicken, may key candidate determining color differentiation summary, this study first revealed characteristics via scRNA-seq technology. These datasets provide valuable information for avian important implications future poultry breeding.

Language: Английский

Citations

4
Identification of a RAB32-LRMDA-Commander membrane trafficking complex reveals the molecular mechanism of human oculocutaneous albinism type 7 DOI Creative Commons
Rebeka Butkovič, Michael D. Healy, Cecilia de Heus

et al.

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 4, 2025

Abstract Commander is an endosome associated sixteen protein assembly that associates with the sorting nexin 17 (SNX17) cargo adaptor to regulate cell surface recycling of internalised integral membrane proteins including integrins and lipoprotein receptors. Mutations in are causative for Ritscher-Schinzel syndrome (RSS), a multiorgan developmental disease core triad cerebellar-cardiac-craniofacial malformation. Here, using unbiased proteomics computational modelling, we identify leucine rich melanocyte differentiation (LRMDA) as novel binding protein. Using recombinant reconstitution, show LRMDA simultaneously active RAB32, and, by revealing SNX17 share common mechanism association, establish mutually exclusive nature RAB32-LRMDA-Commander SNX17-Commander assemblies. From functional analysis human melanocytes, essential role melanosome biogenesis pigmentation reveal distinct this organelle pathway. We how mutations, oculocutaneous albinism type 7 (OCA7), hypopigmentation disorder accompanied poor visual acuity, uncouple RAB32 thereby establishing mechanistic basis disease. Our discovery characterisation alternative establishes unrecognised plasticity function within highly complex This extends beyond confines SNX17-mediated into RAB32-family mediated lysosome-related organelles potentially, other regulated pathways host-pathogen defence mechanisms. work also breath pathway dysfunction

Language: Английский

Citations

0
The winding road to platelet α-granules DOI Creative Commons

Andrea L. Ambrosio,

Santiago M. Di Pietro

Frontiers in Cell and Developmental Biology, Journal Year: 2025, Volume and Issue: 13

Published: April 16, 2025

Platelets are anucleate cellular fragments derived from megakaryocytes (MKs) and α-granules constitute their most numerous membrane-bound compartments. These granules play a role in platelet aggregation to form hemostatic plug but also contain cargo proteins with key functions angiogenesis, inflammation, wound healing cancer. Human genetic disorders that cause deficiencies the biogenesis of manifest prolonged bleeding. The initial studies on platelets MKs these patients provided first glimpse into biosynthesis as membrane trafficking problem. Significant progress field has been made recent years part due creation iPSC-derived megakaryocytic cells capable releasing functional platelets, thus overcoming limitations working primary MKs. emerging model indicates sorting recycling endosomes intermediate stations traversed by α-granule way α-granule. Here we describe different pathways used elaborate commonalities. Similar other lysosome-related organelles, involved ubiquitously expressed discuss NBEAL2 factor highly likely diverts this machinery make α-granules. Importantly, understanding making an impact not only biology may illuminate broader organelle field.

Language: Английский

Citations

0
Modeling recent positive selection using identity-by-descent segments DOI
Seth D. Temple, Ryan K. Waples, Sharon R. Browning

et al.

The American Journal of Human Genetics, Journal Year: 2024, Volume and Issue: unknown

Published: Oct. 1, 2024

Language: Английский

Citations

2
Integrative transcriptomics and metabolomics analysis provide insight into the formation of skin pigmentation diversity in Chinese soft-shelled turtle (Pelodiscus sinensis) DOI
Ming Qi, Wei Liu, Wei Li

et al.

Aquaculture, Journal Year: 2024, Volume and Issue: 593, P. 741344 - 741344

Published: July 15, 2024

Language: Английский

Citations

1
Expert Consensus on Big Data Collection of Skin and Appendage Disease Phenotypes in Chinese DOI
Shuang Zhao, Zhongling Luo, Ying Wang

et al.

Phenomics, Journal Year: 2024, Volume and Issue: 4(3), P. 269 - 292

Published: June 1, 2024

Language: Английский

Citations

1