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Native American pigment

Kaustubh Adhikari, Javier Mendoza-Revilla, Anood Sohail, Macarena Fuentes-Guajardo, Jodie Lampert, Juan Camilo Chacón-Duque, Malena Hurtado, Valeria Villegas, Vanessa Granja, Victor Acuña-Alonzo, Claudia Jaramillo, William Arias, Rodrigo Barquera Lozano, Paola Everardo, Jorge Gómez-Valdés, Hugo Villamil-Ramírez, Caio C Silva de Cerqueira, Tábita Hunemeier, Virginia Ramallo, Lavinia Schuler-Faccini, Francisco M Salzano, Rolando Gonzalez-José, Maria-Cátira Bortolini, Samuel Canizales-Quinteros, Carla Gallo, Giovanni Poletti, Gabriel Bedoya, Francisco Rothhammer, Desmond J Tobin, Matteo Fumagalli, David Balding, Andrés Ruiz-Linares
We report a genome-wide association scan in >6,000 Latin Americans for pigmentation of skin and eyes. We found eighteen signals of association at twelve genomic regions. These include one novel locus for skin pigmentation (in 10q26) and three novel loci for eye pigmentation (in 1q32, 20q13 and 22q12). We demonstrate the presence of multiple independent signals of association in the 11q14 and 15q13 regions (comprising the GRM5/TYR and HERC2/OCA2 genes, respectively) and several epistatic interactions among independently associated alleles...
January 21, 2019: Nature Communications
Rena M Schweizer, Arun Durvasula, Joel Smith, Samuel H Vohr, Daniel R Stahler, Marco Galaverni, Olaf Thalmann, Douglas W Smith, Ettore Randi, Elaine A Ostrander, Richard E Green, Kirk E Lohmueller, John Novembre, Robert K Wayne
Pigmentation is often used to understand how natural selection affects genetic variation in wild populations since it can have a simple genetic basis, and can affect a variety of fitness-related traits (e.g., camouflage, thermoregulation, and sexual display). In gray wolves, the K locus, a β-defensin gene, causes black coat color via a dominantly inherited KB allele. The allele is derived from dog-wolf hybridization and is at high frequency in North American wolf populations. We designed a DNA capture array to probe the geographic origin, age, and number of introgression events of the KB allele in a panel of 331 wolves and 20 dogs...
May 1, 2018: Molecular Biology and Evolution
Csaba Csuzdi, Chih-Han Chang, Tomás Pavlícek, Tímea Szederjesi, David Esopi, Katalin Szlávecz
The family Lumbricidae is arguably the most well-known and well-studied earthworm group due to its dominance in the European earthworm fauna and its invasion in temperate regions worldwide. However, its North American members, especially the genus Bimastos Moore, 1893, are poorly understood. We revised the systematics of the genus Bimastos and tested the hypothesis of the monophyly of North American lumbricids using morphological characters and eight molecular markers. Phylogenetic analyses based on our extensive sampling of Bimastos and inclusion of Dendrodrilus and Allolobophoridella indicated a well-supported clade containing Bimastos and Eisenoides Gates, 1969, and provided the first evidence supporting that North American lumbricids are monophyletic...
2017: PloS One
Rebecca K Beresic-Perrins, Fredric R Govedich, Kelsey Banister, Bonnie A Bain, Devin Rose, Stephen M Shuster
A new leech species Helobdella blinnisp. n., is described from Montezuma Well, an isolated travertine spring mound located in central Arizona, USA. In its native habitat, Helobdella blinni had been previously identified as Helobdella stagnalis (Linnaeus, 1758), which was later reclassified to Helobdella modesta (Verrill, 1872). Similar to the European Helobdella stagnalis and North American Helobdella modesta, Helobdella blinni has six pairs of testisacs, five pairs of smooth crop caecae, one lobed pair of posteriorly-directed crop caecae, one pair of eyes, a nuchal scute, and diffuse salivary glands...
2017: ZooKeys
Juan B Yepez, Felipe A Murati, Michele Pettito, Carlos F Peñaranda, Jazmin de Yepez, Gladys Maestre, J Fernando Arevalo
Importance: The ocular manifestations and sequelae of Zika virus infection are not well known. Recently, the World Health Organization changed the declaration of Zika as a public health emergency and designated the viral outbreak and related microcephaly clusters as a long-term program of work. This change indicates the urgent need to evaluate and document ophthalmic manifestations in patients for timely management of this disease. In addition, confirmation whether the public health problem in Brazil extends to other regions in South America is needed...
May 1, 2017: JAMA Ophthalmology
Natalia Hernandez-Pacheco, Carlos Flores, Santos Alonso, Celeste Eng, Angel C Y Mak, Scott Hunstman, Donglei Hu, Marquitta J White, Sam S Oh, Kelley Meade, Harold J Farber, Pedro C Avila, Denise Serebrisky, Shannon M Thyne, Emerita Brigino-Buenaventura, William Rodriguez-Cintron, Saunak Sen, Rajesh Kumar, Michael Lenoir, Jose R Rodriguez-Santana, Esteban G Burchard, Maria Pino-Yanes
Skin pigmentation is a complex trait that varies largely among populations. Most genome-wide association studies of this trait have been performed in Europeans and Asians. We aimed to uncover genes influencing skin colour in African-admixed individuals. We performed a genome-wide association study of melanin levels in 285 Hispanic/Latino individuals from Puerto Rico, analyzing 14 million genetic variants. A total of 82 variants with p-value ≤1 × 10-5 were followed up in 373 African Americans. Fourteen single nucleotide polymorphisms were replicated, of which nine were associated with skin colour at genome-wide significance in a meta-analysis across the two studies...
March 16, 2017: Scientific Reports
Eugenia P Tomasini, Fernando Marte, Valeria P Careaga, Carlos Rúa Landa, Gabriela Siracusano, Marta S Maier
The image of Our Lady of Copacabana, a gilded polychrome sculpture carved in maguey wood in 1583, is one of the most important devotions in the Americas. In former research, we have identified the use of gypsum, Armenian bole, cerussite and atacamite in its polychromy. In this study, a red sample taken from the Virgin's tunic and a blue sample extracted from the cloak have been analysed with the aim to identify both pigments and offer insights into the painting technique. Analysis by micro-Raman spectroscopy complemented with scanning electron microscopy-energy dispersive spectroscopy and high-performance liquid chromatography allowed the identification of carmine lake in the red sample...
December 13, 2016: Philosophical Transactions. Series A, Mathematical, Physical, and Engineering Sciences
James T Handa, Mizuki Tagami, Katayoon Ebrahimi, Gregor Leibundgut, Anna Janiak, Joseph L Witztum, Sotirios Tsimikas
PURPOSE: To test the hypothesis that the accumulation of oxidized phospholipids (OxPL) in the macula is toxic to the retina unless neutralized by a variety of mechanisms, including binding by lipoprotein(a) [Lp(a)], which is composed of apolipoprotein(a) [apo(a)] and apolipoprotein B-100 (apoB). METHODS: Human maculas and eyes from two Lp(a) transgenic murine models were subjected to morphologic, ultrastructural, and immunohistochemical analysis. "Wild-type Lp(a)" mice, which express human apoB-100 and apo(a) that contains oxidized phospholipid, and "mutant LBS(-) Lp(a)" mice with a defective apo(a) lysine binding site (LBS) for oxidized phospholipid binding, were fed a chow or high-fat diet for 2 to 12 months...
2015: Transactions of the American Ophthalmological Society
Hadassa C Santos, Andréa V R Horimoto, Eduardo Tarazona-Santos, Fernanda Rodrigues-Soares, Mauricio L Barreto, Bernardo L Horta, Maria F Lima-Costa, Mateus H Gouveia, Moara Machado, Thiago M Silva, José M Sanches, Nubia Esteban, Wagner C S Magalhaes, Maíra R Rodrigues, Fernanda S G Kehdy, Alexandre C Pereira
The Brazilian population is considered to be highly admixed. The main contributing ancestral populations were European and African, with Amerindians contributing to a lesser extent. The aims of this study were to provide a resource for determining and quantifying individual continental ancestry using the smallest number of SNPs possible, thus allowing for a cost- and time-efficient strategy for genomic ancestry determination. We identified and validated a minimum set of 192 ancestry informative markers (AIMs) for the genetic ancestry determination of Brazilian populations...
May 2016: European Journal of Human Genetics: EJHG
L S S Oliveira, T C Harrington, R G Freitas, D McNew, A C Alfenas
Species in the North American clade (NAC) of the Ceratocystis fimbriata complex are mostly weak pathogens that infect native tree hosts through fresh wounds. Isolations from discolored tissue of wounded Tilia americana (basswood) in Iowa and Nebraska yielded a Ceratocystis species that was similar to but distinct from isolates of C. variospora from other hosts. Sequences of 28S rDNA showed that isolates from basswood did not differ from C. variospora, but there were minor differences in ITS rDNA sequences. The DNA sequences of a portion of the Cerato-platanin gene and TEF1α showed the basswood fungus to be a unique lineage...
September 2015: Mycologia
Lavanya Rishishwar, Andrew B Conley, Charles H Wigington, Lu Wang, Augusto Valderrama-Aguirre, I King Jordan
The human dimension of the Columbian Exchange entailed substantial genetic admixture between ancestral source populations from Africa, the Americas and Europe, which had evolved separately for many thousands of years. We sought to address the implications of the creation of admixed American genomes, containing novel allelic combinations, for human health and fitness via analysis of an admixed Colombian population from Medellin. Colombian genomes from Medellin show a wide range of three-way admixture contributions from ancestral source populations...
2015: Scientific Reports
April M Teague, David A Fields, Christopher E Aston, Kevin R Short, Timothy J Lyons, Steven D Chernausek
BACKGROUND: Offspring of women with diabetes mellitus (DM) during pregnancy have a risk of developing metabolic disease in adulthood greater than that conferred by genetics alone. The mechanisms responsible are unknown, but likely involve fetal exposure to the in utero milieu, including glucose and circulating adipokines. The purpose of this study was to assess the impact of maternal DM on fetal adipokines and anthropometry in infants of Hispanic and Native American women. METHODS: We conducted a prospective study of offspring of mothers with normoglycemia (Con-O; n = 79) or type 2 or gestational DM (DM-O; n = 45) pregnancies...
2015: Reproductive Biology and Endocrinology: RB&E
Rhonda Sullivan
BACKGROUND: As skin assessment is critical to pressure ulcer prevention, it is essential that practitioners performing skin assessments understand individuals with dark skin tones may represent at-risk persons. In addition, visual cues commonly associated with the identification of stage I and suspected deep tissue injury (sDTI) pressure ulcers may not be sufficient in persons with darkly pigmented skin. OBJECTIVE: The purpose of this study was to identify common descriptors associated with stage I and sDTI pressure ulcers in persons with darkly pigmented skin, to determine whether the National Pressure Ulcer Advisory Panel (NPUAP) definitions are adequate, and to identify additional descriptors that might aid practitioners in identifying pressure ulcers in this at-risk population...
December 2014: Wounds: a Compendium of Clinical Research and Practice
Beatriz Marcheco-Teruel, Esteban J Parra, Evelyn Fuentes-Smith, Antonio Salas, Henriette N Buttenschøn, Ditte Demontis, María Torres-Español, Lilia C Marín-Padrón, Enrique J Gómez-Cabezas, Vanesa Alvarez-Iglesias, Ana Mosquera-Miguel, Antonio Martínez-Fuentes, Angel Carracedo, Anders D Børglum, Ole Mors
We carried out an admixture analysis of a sample comprising 1,019 individuals from all the provinces of Cuba. We used a panel of 128 autosomal Ancestry Informative Markers (AIMs) to estimate the admixture proportions. We also characterized a number of haplogroup diagnostic markers in the mtDNA and Y-chromosome in order to evaluate admixture using uniparental markers. Finally, we analyzed the association of 16 single nucleotide polymorphisms (SNPs) with quantitative estimates of skin pigmentation. In the total sample, the average European, African and Native American contributions as estimated from autosomal AIMs were 72%, 20% and 8%, respectively...
July 2014: PLoS Genetics
Paul B Vrana, Kimberly R Shorter, Gabor Szalai, Michael R Felder, Janet P Crossland, Monika Veres, Jasmine E Allen, Christopher D Wiley, Amanda R Duselis, Michael J Dewey, Wallace D Dawson
Deer mice (Peromyscus) are the most common native North American mammals, and exhibit great natural genetic variation. Wild-derived stocks from a number of populations are available from the Peromyscus Genetic Stock Center (PGSC). The PGSC also houses a number of natural variants and mutants (many of which appear to differ from Mus). These include metabolic, coat-color/pattern, neurological, and other morphological variants/mutants. Nearly all these mutants are on a common genetic background, the Peromyscus maniculatus BW stock...
May 2014: Wiley Interdisciplinary Reviews. Developmental Biology
Pamela Madu, Roopal V Kundu
Skin of color, also known as ethnic skin, is described as skin of individuals of African, Asian, Hispanic, Native-American, Middle Eastern, and Pacific Island backgrounds. Differences in hair morphology, hair grooming, cultural practices, and susceptibility to keloid scarring exist within these populations and have been implicated in hair, scalp, and skin disorders. Acne keloidalis (AK), central centrifugal cicatricial alopecia (CCCA), dissecting cellulitis of the scalp (DCS), pseudofolliculitis barbae (PFB), traction alopecia (TA), and keloids are the most prevalent follicular and scarring disorders in skin of color...
August 2014: American Journal of Clinical Dermatology
C Phillips, W Parson, B Lundsberg, C Santos, A Freire-Aradas, M Torres, M Eduardoff, C Børsting, P Johansen, M Fondevila, N Morling, P Schneider, A Carracedo, M V Lareu
Emerging next-generation sequencing technologies will enable DNA analyses to add pigmentation predictive and ancestry informative (AIM) SNPs to the range of markers detectable from a single PCR test. This prompted us to re-appraise current forensic and genomics AIM-SNPs and from the best sets, to identify the most divergent markers for a five population group differentiation of Africans, Europeans, East Asians, Native Americans and Oceanians by using our own online genome variation browsers. We prioritized careful balancing of population differentiation across the five group comparisons in order to minimize bias when estimating co-ancestry proportions in individuals with admixed ancestries...
July 2014: Forensic Science International. Genetics
Katherine Butler Gettings, Ronald Lai, Joni L Johnson, Michelle A Peck, Jessica A Hart, Heather Gordish-Dressman, Moses S Schanfield, Daniele S Podini
When an STR DNA profile obtained from crime scene evidence does not match identified suspects or profiles from available databases, further DNA analyses targeted at inferring the possible ancestral origin and phenotypic characteristics of the perpetrator could yield valuable information. Single Nucleotide Polymorphisms (SNPs), the most common form of genetic polymorphisms, have alleles associated with specific populations and/or correlated to physical characteristics. We have used single base primer extension (SBE) technology to develop a 50 SNP assay (composed of three multiplexes) designed to predict ancestry among the primary U...
January 2014: Forensic Science International. Genetics
David Wragg, Joram M Mwacharo, José A Alcalde, Chen Wang, Jian-Lin Han, Jaime Gongora, David Gourichon, Michèle Tixier-Boichard, Olivier Hanotte
Oocyan or blue/green eggshell colour is an autosomal dominant trait found in native chickens (Mapuche fowl) of Chile and in some of their descendants in European and North American modern breeds. We report here the identification of an endogenous avian retroviral (EAV-HP) insertion in oocyan Mapuche fowl and European breeds. Sequencing data reveals 100% retroviral identity between the Mapuche and European insertions. Quantitative real-time PCR analysis of European oocyan chicken indicates over-expression of the SLCO1B3 gene (P<0...
2013: PloS One
Roopal V Kundu, Stavonnie Patterson
Skin of color traditionally refers to that of persons of African, Asian, Native American, Middle Eastern, and Hispanic backgrounds. Differences in cutaneous structure and function can result in skin conditions with distinct presentations and varying prevalence that require unique treatment. Skin cancers have different presentations in these populations. The ability to recognize and diagnose skin cancer in a timely manner is important for reducing morbidity and mortality. Basal cell carcinoma often is pigmented, squamous cell carcinoma occurs in areas of chronic scarring and inflammation, and melanoma presents in non-sun-exposed areas, such as the soles and nail beds...
June 15, 2013: American Family Physician
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