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

Uncovering molecular mechanisms for amelanotic/hypopigmented primary cutaneous melanoma DOI Creative Commons
Richard A. Sturm, Darren J. Smit, David L. Duffy

et al.

British Journal of Dermatology, Journal Year: 2024, Volume and Issue: unknown

Published: Aug. 20, 2024

A portion of approximately 2-20% cutaneous melanoma (CM) are diagnosed as amelanotic/hypopigmented (AHM) and represent a challenge for early diagnosis.

Language: Английский

Citations

1
Disentangling Race from Skin Color in Modern Biology and Medicine DOI Creative Commons
Valerie Horsley, O.E. Dadzie, Russell P. Hall

et al.

Journal of Investigative Dermatology, Journal Year: 2024, Volume and Issue: unknown

Published: Nov. 1, 2024

In this review, we examine the taxonomies used to classify people, which influenced development of modern disciplines biology and medicine, including dermatology, throughout world. Early European scientists physicians were intertwined with social environment that created classifications hierarchies skin-color–based races, reinforced by prevailing political systems supported colonial economic structures and, in many cases, chattel slavery. Even after genomic analysis diverse human DNA sequences have revealed skin color–based racial ethnic classification lacked biological meaning socially constructed, these persist are census frameworks for comparisons biomedicine parts The bodies knowledge practices built on did not reflect observable diversity people but dominant cultural institutions their times. We provide actions our reduce underpinnings ramifications ultimately improve biomedical research medical care all patients.

Language: Английский

Citations

1
Structural and Evolutionary Relationships of Melanin Cascade Proteins in Cnidarian Innate Immunity DOI Creative Commons
Emily W. Van Buren,

Ivan E Ponce,

Kelsey M. Beavers

et al.

Integrative and Comparative Biology, Journal Year: 2024, Volume and Issue: 64(5), P. 1320 - 1337

Published: July 16, 2024

Synopsis Melanin is an essential product that plays important role in innate immunity a variety of organisms across the animal kingdom. synthesis performed by many using tyrosine metabolism pathway, general pathway utilizes type-three copper oxidase protein, called PO-candidates (phenoloxidase candidates). While melanin well-characterized like arthropods and humans, it not as well-understood non-model such cnidarians. With rising anthropomorphic climate change influence on marine ecosystems, cnidarians, specifically corals, are under increased threat bleaching disease. Understanding immune pathways, synthesis, vital for gaining insights into how corals may be able to fight these threats. In this study, we use comparative bioinformatic approaches provide comprehensive analysis genes involved tyrosine-mediated Eighteen representing five phyla were studied identify their evolutionary relationship. Cnidarian species most similar chordates due domain presents amino acid sequences. From there, functionally conserved domains coral proteins identified disease dataset. Five stony exposed tissue loss leveraged 18 putative genes, with Homo sapiens counterpart. To put context health, correlated concentration from tissues exposure tyrosinase was concentrations likely key resistance trait. addition, assigned all modules within indicating conservation phyla. Overall, study provides

Language: Английский

Citations

1
Dynamic changes in the skin transcriptome for the melanin pigmentation in embryonic chickens DOI Creative Commons

Dong Leng,

Maosen Yang,

Xiaomeng Miao

et al.

Poultry Science, Journal Year: 2024, Volume and Issue: 104(1), P. 104210 - 104210

Published: Aug. 13, 2024

Dermal hyperpigmentation stands out among the various skin pigmentation phenotypes in chickens, where most other variants affect feather color and patterning predominantly. Despite numerous black chicken breeds worldwide, only a select few exhibit comprehensive pigmentation, which encompasses skin, meat, flesh, bones. The process of melanin is intricate develops successively. Historically, research has concentrated primarily on specific developmental points or stages, but fewer studies have examined entire transcriptome across timeline development embryo integument. In our investigation, we undertook sequencing samples from day 4 to 13 incubation. Our results showed that melanoblasts continued migrate E4 epidermis until E12. Beginning with E6, was synthesized transferred epidermal cells follicles large quantities, genes such as DCT, TYR, TYRP1, MITF played key role this process, significantly different white-skinned chickens. There were 854 differentially expressed between E7 E8. At stage, melanocytes formed dendritic forms keratinocytes, while dorsal became visibly dark. addition, CDH3 , core factor involved variety biological processes, may an important impact pigmentation. Collectively, findings unveiled phased relationship canonical pathway non-canonical E13. These analyses illuminated gene regulatory mechanism provided foundational data pertained

Language: Английский

Citations

1
Modeling recent positive selection in Americans of European ancestry DOI Open Access
Seth D. Temple, Ryan K. Waples, Sharon R. Browning

et al.

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2023, Volume and Issue: unknown

Published: Nov. 16, 2023

Abstract Recent positive selection can result in an excess of long identity-by-descent (IBD) haplotype segments. The statistical methods that we propose here address three major objectives studying classical selective sweeps: scanning for regions interest, identifying possible sweeping alleles, and estimating a coefficient s . First, implement scan to locate IBD rate. Second, develop statistic rank alleles strong linkage disequilibrium with putative allele. We aggregate these scores estimate the allele frequency allele, even if it is not genotyped. Lastly, estimator quantify uncertainty using parametric bootstrap. Comparing against state-of-the-art extensive simulations, show our are better at pinpointing low ≥ 0.015. apply study inferred European ancestry samples from TOPMed project. find twelve loci where their rates exceed four standard deviations above population median. rate LCT thirty-five median, estimates its imply within past 120 163 generations. Overall, present robust accurate new approaches very recent adaptive evolution under mild assumptions.

Language: Английский

Citations

3
Transcriptome and Metabolome Provide Insight into the Formation Mechanism of Skin Pigmentation Diversity in Chinese Soft-Shelled Turtle (Pelodiscus Sinensis) DOI
Ming Qi, Wei Liu, Wei Li

et al.

Published: Jan. 1, 2024

Download This Paper Open PDF in Browser Add to My Library Share: Permalink Using these links will ensure access this page indefinitely Copy URL DOI

Language: Английский

Citations

0
Label-Free Melanoma Phenotype Classification Using Artificial Intelligence-Based Morphological Profiling DOI
Evelyn Lattmann,

Andreja Jovic,

Julie Kim

et al.

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: July 2, 2024

Abstract Melanomas are the deadliest skin cancers, in part due to cellular plasticity and heterogeneity. Intratumoral heterogeneity drives varied mutable phenotypes, specifically “melanocytic” “mesenchymal” cell states, which result differential functional properties drug responses. Definitive rigorous classification of these phenotypic states has been challenging with conventional biomarker-based methods, high-parameter molecular methods cell-destructive, labor-intensive, time-consuming. To overcome technical practical limitations, we utilized label-free artificial intelligence-based morphological profiling classify live melanoma cells into melanocytic mesenchymal phenotypes based on high resolution imaging single cells. predict morphology alone, developed AI-based ‘Melanoma Phenotype Classifier’ trained 19 patient-derived lines known or transcriptional profiles. link state high-dimensional profiles, were subjected genetic chemical perturbations shift states. The AI classifier successfully predicted shifts confirmed by single-cell RNA-Seq (scRNA-Seq). These results demonstrate that correlations between changes detectable AI. Additionally, Melanoma Classifier was applied dissociated tumor biopsy samples characterization supported scRNA-Seq This work establishes a laying groundwork for use morphology-based method phenotyping combined additional analyses.

Language: Английский

Citations

0
Distinct melanocyte subpopulations defined by stochastic expression of proliferation or maturation programs enable a rapid and sustainable pigmentation response DOI Creative Commons
Ayush Aggarwal,

Ayesha Nasreen,

Babita Sharma

et al.

PLoS Biology, Journal Year: 2024, Volume and Issue: 22(8), P. e3002776 - e3002776

Published: Aug. 20, 2024

The ultraviolet (UV) radiation triggers a pigmentation response in human skin, wherein, melanocytes rapidly activate divergent maturation and proliferation programs. Using single-cell sequencing, we demonstrate that these 2 programs are segregated distinct subpopulations of zebrafish skin. coexistence cell states cultured suggests possible autonomy. Luria-Delbrück fluctuation test reveals the initial establishment is stochastic. Tracking pigmenting cells ascertains stochastically acquired state faithfully propagated progeny. A systemic approach combining multi-omics (RNA+ATAC) coupled to enhancer mapping with H3K27 acetylation successfully identified state-specific transcriptional networks. This comprehensive analysis led construction gene regulatory network (GRN) under influence noise, establishes bistable system at population level. GRN recapitulates melanocyte behaviour external cues reinforce either states. Our work highlights inherent stochasticity within dedicated states, mature sustained by selective enhancers mark through histone acetylation. While cue response, continued signal activates maintains subpopulation via epigenetic imprinting. Thereby our study provides basis populations which ensures effective while preserving self-renewal capacity.

Language: Английский

Citations

0
A cutting-edge atomization-based methodology for enhancing formulation ability to resist photoaging DOI Creative Commons

Juntong Li,

Shuyu Wang,

Ruifang Han

et al.

Deleted Journal, Journal Year: 2024, Volume and Issue: unknown, P. 100045 - 100045

Published: Sept. 1, 2024

Language: Английский

Citations

0
Understanding genetic variants in context DOI Creative Commons
Nasa Sinnott-Armstrong, Stanley Fields, Frederick P. Roth

et al.

eLife, Journal Year: 2024, Volume and Issue: 13

Published: Dec. 3, 2024

Over the last three decades, human genetics has gone from dissecting high-penetrance Mendelian diseases to discovering vast and complex genetic etiology of common diseases. In tackling this complexity, scientists have discovered importance numerous processes – most notably functional regulatory elements in development progression these Simultaneously, increasingly used multiplex assays variant effect systematically phenotype cellular consequences millions variants. article, we argue that context variants at all scales, other gene regulation cell biology organismal environment are critical components how can employ genomics interpret variants, ultimately treat We describe approaches extend existing experimental computational examine quantify context, including through causal analytic approaches. Having a unified understanding molecular, physiological, environmental governing interpretation is sorely needed for field, perspective argues feasible by which combined cellular, animal, epidemiological data yield knowledge.

Language: Английский

Citations

0