Application of a 24-SNP Multiplex Genotyping Assay System for Phenotypic Identification of Fujian Han Population.

BACKGROUND: This study aimed to evaluate the utility of 24 single nucleotide polymorphism (SNP) loci associated with iris color and hair color in phenotypic identification of the Han Chinese population in Fujian Province. The selected SNPs, known for their strong correlation with specific human phenotypic features, provide valuable reference data for developing a molecular phenotypic identification system. METHODS: A multiplex genotyping assay system was established with primers for the 24 SNPs linked to iris color and hair color synthesized based on existing literature. In total, 235 unrelated individuals of Han Chinese ethnicity in Fujian Province were included in this study. PowerStats v12 was employed to calculate forensic parameters associated with the 24 SNP loci, including gene frequencies, genotype frequencies, minor allele frequencies, discrimination power (DP), polymorphism information content (PIC), and observed heterozygosity (Ho). Hardy-Weinberg equilibrium tests were conducted for each locus. The SNP genotyping results were uploaded to the HIrisPlex model (https://HIrisPlex.erasmusmc.nl/) to predict iris and hair colors, and the inferred results were compared with manually assessed images. The accuracy of pigment phenotype inference was evaluated by using ROC curves in SPSS 26.0 software. RESULTS: The accuracy rates of inferring brown iris and black hair phenotypes were 99.6% and 99.5%. The area under the curve (AUC) values were 0.923 and 0.980, respectively. CONCLUSIONS: The 24 SNP loci demonstrated high accuracy in inferring iris color and hair color; it seems to be a useful tool for forensic phenotypic identification and anthropological or evolutionary applications. Establishment of suitable pigment classification criteria and optimized prediction models is based on revealing more phenotypic genetic markers.

Transcriptome-based screening and validation of key genes for wool color in cashmere goats.

BACKGROUND: Colored wool from cashmere goats is increasingly popular among consumers, but the transcriptomic differences between coat colors are poorly understood. OBJECTIVES: This study aimed to screen for coat color regulation-associated genes in cashmere goats to ascertain their underlying molecular mechanisms. METHODS: Transcriptomic sequencing of skin tissues from black (BC), brown (YC), and white cashmere (WC) goats was performed. Immunohistochemistry and western blotting were used to validate SLC24A4 and DCT expression, two essential genes identified for coat color determination. RESULTS: We identified 6,518 differentially expressed genes (DEGs) in the BC vs. WC group (3,919 upregulated, 2,599 downregulated). Next, 5,593 DEGs were identified in the YC vs. WC group (3,629 upregulated, 1,964 downregulated). Finally, 4,538 DEGs were expressed in both groups, with 1,980 and 1,055 DEGs exclusively expressed in either group. Functions and pathways associated with hair color were enriched, including melanosomes, melanocyte migration, melanin biosynthesis processes and functions, and melanogenesis pathways. TYRP1, SLC24A4, PMEL, OCA2, and DCT were significantly upregulated in BC goat skin, while ASIP was significantly upregulated in YC skin. Additionally, KIT, POMC, SLC24A5, Wnt3a, and EDN3 were DEGs for different coat colors. Immunohistochemistry revealed SLC24A4 and DCT expression in dermal papillae, inner and outer root sheaths, and the hair follicle matrix. Western blotting showed that SLC24A4 protein levels were highest in BC goat skin. DCT protein levels were also highest in BC goat skin, albeit not significantly. CONCLUSION: These results further our understanding of coat color regulation in cashmere goats, establishing a foundation for their molecular breeding.

An intronic copy number variation in Syntaxin 17 determines speed of greying and melanoma incidence in Grey horses.

The Greying with age phenotype in horses involves loss of hair pigmentation whereas skin pigmentation is not reduced, and a predisposition to melanoma. The causal mutation was initially reported as a duplication of a 4.6 kb intronic sequence in Syntaxin 17. The speed of greying varies considerably among Grey horses. Here we demonstrate the presence of two different Grey alleles, G2 carrying two tandem copies of the duplicated sequence and G3 carrying three. The latter is by far the most common allele, probably due to strong selection for the striking white phenotype. Our results reveal a remarkable dosage effect where the G3 allele is associated with fast greying and high incidence of melanoma whereas G2 is associated with slow greying and low incidence of melanoma. The copy number expansion transforms a weak enhancer to a strong melanocyte-specific enhancer that underlies hair greying (G2 and G3) and a drastically elevated risk of melanoma (G3 only). Our direct pedigree-based observation of the origin of a G2 allele from a G3 allele by copy number contraction demonstrates the dynamic evolution of this locus and provides the ultimate evidence for causality of the copy number variation of the 4.6 kb intronic sequence.

Agouti-Signaling Protein and Melanocortin-1-Receptor Mutations Associated with Coat Color Phenotypes in Fallow Deer (Dama dama).

Four dominant coat color phenotypes are found in fallow deer (Dama dama). Brown is the most common. Black, menil, and white occur with varying frequencies. In order to gain insights into the molecular genetic background of these phenotypes, 998 fallow animals (772 brown, 62 black, 126 menil, and 38 white) were examined for mutations in the ASIP, MC1R, TYR, and SLC45A2 genes. In ASIP, two mutations (ASIP-M-E2, located at the boundary from exon 2 to intron 2; and ASIP-M-E3, an InDel of five nucleotides) were found, leading to black fallow deer being either homozygous or heterozygous in combination. There were also two mutations found in MC1R. Whereby the mutation MC1R-M1 (leucine to proline, L48P) homozygous leads to a white coat, while the mutation MC1R-M2 (glycine to aspartic acid, G236D) homozygous is associated with the menil phenotype. When both mutations occur together in a heterozygous character state, it results in a menil coat. Since the mutations in the two genes are only present alternatively, 36 genotypes can be identified that form color clusters to which all animals can be assigned. No mutations were found in the TYR and SLC45A2 genes. Our investigations demonstrate that the four dominant coat colors in fallow deer can be explained by ASIP and MC1R mutations only.

Thermotolerance in Angus cattle is related to hair coat characteristics but not to coat color.

This study evaluated the impact of coat color (CC) and hair coat characteristics (HC) on productive and physiological traits related to thermotolerance in Angus heifers. The goal was to determine if HC and/or CC were reliable indicators of thermotolerance on a large scale for future breeding programs. Ninety-three 15-month-old Angus heifers (52 black, 41 red) were evaluated in three periods on a beef cattle farm in Brazil. Heifers were classified by CC and HC, and body weight, body condition score (BCS), and reproductive tract score (RTS) were compared between groups. In the summer evaluation, surface temperature (infrared thermography), internal temperature (intravaginal sensors), sweating rate, and behavior were assessed in a subset of heifers. Temperature-humidity index (THI) was calculated using meteorological data. The proportion of heifers with short, fine, and smooth hair (HC1) increased (P < 0.05) over the evaluations. Heifers with thick, long, and woolly hair (HC3) had lower (P < 0.05) body weights than those with finer coats, regardless of CC. Black heifers had greater (P < 0.05) puberty rates than red heifers in the first two evaluations. At a THI of 66, black heifers with HC1 exhibited a lower (P < 0.05) internal temperature compared to black heifers with HC3. At a THI of 75, all heifers with HC1 had lower (P < 0.05) internal temperatures, regardless of CC. Red heifers and those with HC3 experienced hyperthermia for longer (P < 0.05) periods. Neither HC nor CC affected (P > 0.05) surface temperatures or sweating rates. At a THI of 72, more black heifers remained standing, suggesting behavioral adaptation. In conclusion, coat color and characteristics influence thermal stress and performance in Angus heifers, though color impact is limited. Internal temperature monitoring effectively determines thermotolerance. In tropical regions, selecting for short, fine, smooth hair may improve heat tolerance.

Do newborn lambs with black and white hair-coats in an equatorial semi-arid environment maintain homeothermy?

We assessed newborn lambs from two hair-coat sheep breeds, the black Santa Ines (n = 29) and white Dorper (n = 26), to determine how they behaviourally and physiologically respond to the prevailing thermal conditions in an equatorial semi-arid environment. Measurements of hair-coat surface temperature, rectal temperature and the lambs' exposure to sun were recorded across the first 24 h of life every hour, after the lambs had received colostrum. Lambs and ewes were kept in a lambing pen and could freely move between a shaded area or be exposed to sun. During the study period, the air temperature ranged between 20 ºC and 34 ºC. When exposed to sun, lambs and ewes could experience as much as 1200 W m-2 of solar irradiance. Santa Ines lambs exhibited higher (highest density interval at 95%, HDI) hair-coat surface temperatures than did Dorper lambs. Overall, both Santa Ines and Dorper lambs sustained homeothermy, with a mean rectal temperature ranging from 38.7 ºC to 39.1 ºC between night and daytime phase, and a mean amplitude of ~ 0.8 ºC. Nevertheless, from 10:00 to 15:00, some lambs were found to be moderately hyperthermic. Five Santa Ines and three Dorper lambs had rectal temperatures above 40 ºC, and one Santa Ines lamb, while exposed to sun, had a rectal temperature of 41.3 ºC. Over this time period, lambs were more likely to move to shade (HDI at 95%). From 00:00 to 06:00, despite the air temperature being lower than the hair-coat surface, favouring high rates of sensible heat loss to the environment, no lamb exhibited signs of hypothermia (rectal temperature < 37.5 ºC). In conclusion, haired newborn lambs coped well with high levels of radiant heat during the daytime and lower temperatures at night. However, providing access to shade during the daytime is important to improve the welfare of newborn lambs delivered in equatorial semi-arid regions.

Melanin for Photoprotection and Hair Coloration in the Emerging Era of Nanocosmetics.

Nanotechnology is revolutionizing fields of high social and economic impact. such as human health preservation, energy conversion and storage, environmental decontamination, and art restoration. However, the possible global-scale application of nanomaterials is raising increasing concerns, mostly related to the possible toxicity of materials at the nanoscale. The possibility of using nanomaterials in cosmetics, and hence in products aimed to be applied directly to the human body, even just externally, is strongly debated. Preoccupation arises especially from the consideration that nanomaterials are mostly of synthetic origin, and hence are often seen as "artificial" and their effects as unpredictable. Melanin, in this framework, is a unique material since in nature it plays important roles that specific cosmetics are aimed to cover, such as photoprotection and hair and skin coloration. Moreover, melanin is mostly present in nature in the form of nanoparticles, as is clearly observable in the ink of some animals, like cuttlefish. Moreover, artificial melanin nanoparticles share the same high biocompatibility of the natural ones and the same unique chemical and photochemical properties. Melanin is hence a natural nanocosmetic agent, but its actual application in cosmetics is still under development, also because of regulatory issues. Here, we critically discuss the most recent examples of the application of natural and biomimetic melanin to cosmetics and highlight the requirements and future steps that would improve melanin-based cosmetics in the view of future applications in the everyday market.

A new Finnish flavor of feline coat coloration, "salmiak," is associated with a 95-kb deletion downstream of the KIT gene.

Cats with a distinctive white hair pattern of unknown molecular cause have been discovered in the Finnish domestic cat population. Based on the unique appearance of these cats, we have named this phenotype salmiak ("salty licorice"). The use of a commercially available panel test to genotype four salmiak-colored cats revealed the absence of all known variants associated with white-haired phenotypic loci: full White (W), Spotting (Ws) and the Birman white Gloves associated (wg) allele of the KIT proto-oncogene (KIT) gene. Whole-genome sequencing on two salmiak-colored cats was conducted to search for candidate causal variants in the KIT gene. Despite a lack of coding variants, visual inspection of the short read alignments revealed a large ~95 kb deletion located ~65 kb downstream of the KIT gene in the salmiak cats. Additional PCR genotyping of 180 domestic cats and three salmiak-colored cats confirmed the homozygous derived variant genotype fully concordant with the salmiak phenotype. We suggest the newly identified variant be designated as wsal for "w salmiak".

Opening the dialogue: A preliminary exploration of hair color, hair cleanliness, light, and motion effects on fNIRS signal quality.

INTRODUCTION: Functional near-infrared spectroscopy (fNIRS) is a promising tool for studying brain activity, offering advantages such as portability and affordability. However, challenges in data collection persist due to factors like participant physiology, environmental light, and gross-motor movements, with limited literature on their impact on fNIRS signal quality. This study addresses four potentially influential factors-hair color, hair cleanliness, environmental light, and gross-motor movements-on fNIRS signal quality. Our aim is to raise awareness and offer insights for future fNIRS research. METHODS: Six participants (4 Females, 2 Males) took part in four different experiments investigating the effects of hair color, hair cleanliness, environmental light, and gross-motor movements on fNIRS signal quality. Participants in Experiment 1, categorized by hair color, completed a finger-tapping task in a between-subjects block design. Signal quality was compared between each hair color. Participants in Experiments 2 and 3 completed a finger-tapping task in a within-subjects block design, with signal quality being compared across hair cleanliness (i.e., five consecutive days without washing the hair) and environmental light (i.e., sunlight, artificial light, no light, etc.), respectively. Experiment 4 assessed three gross-motor movements (i.e., walking, turning and nodding the head) in a within-subjects block design. Motor movements were then compared to resting blocks. Signal quality was evaluated using Scalp Coupling Index (SCI) measurements. RESULTS: Lighter hair produced better signals than dark hair, while the impact of environmental light remains uncertain. Hair cleanliness showed no significant effects, but gross motor movements notably reduced signal quality. CONCLUSION: Our results suggest that hair color, environmental light, and gross-motor movements affect fNIRS signal quality while hair cleanliness does not. Nevertheless, future studies with larger sample sizes are warranted to fully understand these effects. To advance future research, comprehensive documentation of participant demographics and lab conditions, along with signal quality analyses, is essential.

Genomic regions associated with coat color in Gir cattle.

Indicine cattle breeds are adapted to the tropical climate, and their coat plays an important role in this process. Coat color influences thermoregulation and the adhesion of ectoparasites and may be associated with productive and reproductive traits. Furthermore, coat color is used for breed qualification, with breeders preferring certain colors. The Gir cattle is characterized by a wide variety of coat colors. Therefore, we performed genome-wide association studies to identify candidate genes for coat color in Gir cattle. Different phenotype scenarios were considered in the analyses and regions were identified on eight chromosomes. Some regions and many candidate genes are influencing coat color in the Gir cattle, which was found to be a polygenic trait. The candidate genes identified have been associated with white spotting patterns and base coat color in cattle and other species. In addition, a possible epistatic effect on coat color determination in the Gir cattle was suggested. This is the first published study that identified genomic regions and listed candidate genes associated with coat color in Gir cattle. The findings provided a better understanding of the genetic architecture of the trait in the breed and will allow to guide future fine-mapping studies for the development of genetic markers for selection.

The Trotter collection: A review of Mildred Trotter's hair research and an update for studies of human variation.

OBJECTIVES: Mildred Trotter was an anatomist and physical anthropologist whose studies on hair morphology, growth, somatic distribution, and trait relationships to age and ethnogeographic population were foundational to the field of microscopical hair analysis. The collection of human hair samples she assembled for her research has been an underutilized resource for studies on human hair variation. We applied updated methods and reviewed Trotter's original data to reassess the relationship hair traits have to diverse population labels. METHODS: Hair form and pigmentation patterns were measured from a subset of the hair samples accumulated by Trotter and we compared our data to Trotter's original results. Variability in hair traits were tested within individuals, within populations, and among ethnogeographic groups. RESULTS: Measured hair cross-section dimensions and melanosome density and distribution revealed substantial variability within individuals and ethnogeographic populations. Hair traits were found to not be distinctly separable by ancestry but instead showed continuous variation across human populations. Trotter's measurements were precise and the dataset she compiled remains valid, though the conclusions should be reviewed in light of our current understanding of human variation. DISCUSSION: Our findings support moving away from categorical ancestry classifications and eliminating the use of outdated racial typologies in favor of more descriptive trait analysis. Detailed analysis of trait pattern distributions are presented that may be useful for future research on human variation. We point to the need for additional research on human variation and hair trait relationships with reference to known population affinity.

Efficient generation of cloned cats with altered coat colour by editing of the KIT gene.

Coat colour largely determines the market demand for several cat breeds. The KIT proto-oncogene (KIT) gene is a key gene controlling melanoblast differentiation and melanogenesis. KIT mutations usually cause varied changes in coat colour in mammalian species. In this study, we used a pair of single-guide RNAs (sgRNAs) to delete exon 17 of KIT in somatic cells isolated from two different Chinese Li Hua feline foetuses. Edited cells were used as donor nuclei for somatic cell nuclear transfer (SCNT) to generate cloned embryos presenting an average cleavage rate exceeding 85%, and an average blastocyst formation rate exceeding 9.5%. 131 cloned embryos were transplanted into four surrogates, and all surrogates carried their pregnancies to term, and delivered 4.58% (6/131) alive cloned kittens, with 1.53% (2/131) being KIT-edited heterozygotes (KITD17/+). The KITD17/+ cats presented an obvious darkness reduction in the mackerel tabby coat. Immunohistochemical analysis (IHC) of skin tissues indicated impaired proliferation and differentiation of melanoblasts caused by the lack of exon17 in feline KIT. To our knowledge, this is the first report on coat colour modification of cats through gene editing. The findings could facilitate further understanding of the regulatory role of KIT on feline coat colour and provide a basis for the breeding of cats with commercially desired coat colour.

Two case studies of persistent white hair regrowth after alopecia areata turning pigmented following treatment.

BACKGROUND: There is a strong correlation between alopecia areata (AA) and the development of white hair. The AA presents itself in many clinical manifestations of depigmented hair as the condition advances. It is uncommon for unpigmented hair to extensively regrow for more than one hair growth cycle in AA and successful conversion to pigmented hair after treatment has not yet been reported. AIM: We report two case studies involving the persistent regrowth of white hair after AA that became pigmented through treatment. PATIENTS: In the first case study, a 47-year-old woman with AA exhibited a fully regrown head of hair, which remained unpigmented. However, after 2 years of treatment with oral methylprednisolone and compound glycopyrrolate, her hair eventually regained its normal pigmentation. In the second case study, a 7-year-old boy with diffuse AA received compound glycyrrhizin (50 mg once daily) and methylprednisolone (4 mg orally once daily) for 3 years. RESULTS: The both patients experienced regrowth of black hair on his entire head, with occasional white hairs. It is hypothesized that the aforementioned medications may regulate immunity by influencing melanocytes or melanin-associated antigens; however, the precise mechanism must be validated through additional histopathological and molecular analysis. CONCLUSION: A larger patient group, possibly in randomized controlled trials, is needed to determine how the indicated treatment affects hair repigmentation after AA. Therefore, more patients must be included for more substantial outcomes from this study.

Premature gray hair development in the interbrow region owing to the loss of maxillary first molars in young mice.

The exact sites of premature hair graying and whether tooth loss causes this condition remain unknown. In this study, we aimed to explore the effect of reduced mastication on premature hair graying. Maxillary first molars were extracted from young mice, and the mice were observed for 3 months, along with non-extraction control group mice. After 3 months, gray hair emerged in the interbrow region of mice in the tooth extraction group but not in the control group. The expression of tyrosinase-related protein-2 (TRP-2) mRNA was lower in the interbrow tissues of young mice without maxillary molars than in those with maxillary molars. Tooth loss leads to interbrow gray hair growth, possibly because of weakened trigeminal nerve input, suggesting that reduced mastication causes premature graying. Thus, prompt prosthetic treatment after molar loss is highly recommended.

Irradiation-induced hair graying in mice: an experimental model to evaluate the effectiveness of interventions targeting oxidative stress, DNA damage prevention, and cellular senescence.

Hair graying, also known as canities or achromotrichia, is a natural phenomenon associated with aging and is influenced by external factors such as stress, environmental toxicants, and radiation exposure. Understanding the mechanisms underlying hair graying is an ideal approach for developing interventions to prevent or reverse age-related changes in regenerative tissues. Hair graying induced by ionizing radiation (γ-rays or X-rays) has emerged as a valuable experimental model to investigate the molecular pathways involved in this process. In this review, we examine the existing evidence on radiation-induced hair graying, with a particular focus on the potential role of radiation-induced cellular senescence. We explore the current understanding of hair graying in aging, delve into the underlying mechanisms, and highlight the unique advantages of using ionizing-irradiation-induced hair graying as a research model. By elucidating the molecular pathways involved, we aim to deepen our understanding of hair graying and potentially identify novel therapeutic targets to address this age-related phenotypic change.

Polarization properties and Umov effect of human hair.

This study delves into the polarization properties of various hair colors using several techniques, including polarization ray tracing, full Stokes, and Mueller matrix imaging. Our analysis involved studying hair in both indoor and outdoor settings under varying lighting conditions. Our results demonstrate a strong correlation between hair color and the degree of linear polarization. Specifically, light-colored hair, such as white and blond, exhibits high albedo and low DoLP. In contrast, dark hair, like black and brown hair, has low albedo and high DoLP. Our research also revealed that a single hair strand displays high diattenuation near specular reflections but high depolarization in areas with diffuse reflections. Additionally, we investigated the wavelength dependency of the polarization properties by comparing the Mueller matrix under illumination at 450 nm and 589 nm. Our investigation demonstrates the impact of hair shade and color on polarization properties and the Umov effect.