Search results for: Gregory S. Barsh

Items from 1 to 20 out of 34 results

article

Medical and psychosocial outcomes of state‐funded population genomic screening

Ashley Cannon, Olivia McMillan, Whitley V. Kelley, Kelly M. East, more

As the uptake of population screening expands, assessment of medical and psychosocial outcomes is needed. Through the Alabama Genomic Health Initiative (AGHI), a state‐funded genomic research program, individuals received screening for pathogenic or likely pathogenic variants in 59 actionable genes via genotyping. Of the 3874 eligible participants that received screening results, 858 (22%) responded...

article

Population structure, inbreeding and stripe pattern abnormalities in plains zebras

Brenda Larison, Christopher B. Kaelin, Ryan Harrigan, Corneliu Henegar, more

Molecular Ecology > 30 > 2 > 379 - 390

One of the most iconic wild equids, the plains zebra occupies a broad region of sub‐Saharan Africa and exhibits a wide range of phenotypic diversity in stripe patterns that have been used to classify multiple subspecies. After decades of relative stability, albeit with a loss of at least one recognized subspecies, the total population of plains zebras has undergone an approximate 25% decline since...

article

Periodic patterns in Rodentia: Development and evolution

Matthew R. Johnson, Gregory S. Barsh, Ricardo Mallarino

Experimental Dermatology > 28 > 4 > 509 - 513

Mammalian periodic pigment patterns, such as spots and stripes, have long interested mathematicians and biologists because they arise from non‐random developmental processes that are programmed to be spatially constrained, and can therefore be used as a model to understand how organized morphological structures develop. Despite such interest, the developmental and molecular processes underlying their...

article

Genomic diagnosis for children with intellectual disability and/or developmental delay

Kevin M. Bowling, Michelle L. Thompson, Michelle D. Amaral, Candice R. Finnila, more

Genome Medicine > 2017 > 9 > 1 > 1-11

Background Developmental disabilities have diverse genetic causes that must be identified to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 of which were sequenced as proband-parent trios. Methods Whole-exome sequences (WES) were generated for 365 individuals (127 affected) and whole-genome sequences (WGS) were generated for 612 individuals (244 affected)...

article

Comparative tissue transcriptomics highlights dynamic differences among tissues but conserved metabolic transcript prioritization in preparation for arousal from torpor

Lori K. Bogren, Katharine R. Grabek, Gregory S. Barsh, Sandra L. Martin

Journal of Comparative Physiology B > 2017 > 187 > 5-6 > 735-748

During the hibernation season, 13-lined ground squirrels spend days to weeks in torpor with body temperatures near freezing then spontaneously rewarm. The molecular drivers of the drastic physiological changes that orchestrate and permit torpor are not well understood. Although transcription effectively ceases at the low body temperatures of torpor, previous work has demonstrated that some transcripts...

article

Electrostatic Similarity Analysis of Human β-Defensin Binding in the Melanocortin System

Matthew A. Nix, Christopher B. Kaelin, Rafael Palomino, Jillian L. Miller, more

Biophysical Journal > 2015 > 109 > 9 > 1946-1958

The β-defensins are a class of small cationic proteins that serve as components of numerous systems in vertebrate biology, including the immune and melanocortin systems. Human β-defensin 3 (HBD3), which is produced in the skin, has been found to bind to melanocortin receptors 1 and 4 through complementary electrostatics, a unique mechanism of ligand-receptor interaction. This finding indicates that...

article

Molecular and Functional Analysis of Human β-Defensin 3 Action at Melanocortin Receptors

Matthew A. Nix, Christopher B. Kaelin, Tina Ta, Allison Weis, more

Chemistry & Biology > 2013 > 20 > 6 > 784-795

The β-defensins are a class of small, cationic proteins first recognized as antimicrobial components of the innate and adaptive immune system. More recently, one of the major β-defensins produced in skin, β-defensin 3, has been discovered to function as a melanocortin receptor ligand in vivo and in vitro, but its biophysical and pharmacological basis of action has been enigmatic. Here, we report functional...

article

Unraveling the thread of nature’s tapestry: the genetics of diversity and convergence in animal pigmentation

Marcus R. Kronforst, Gregory S. Barsh, Artyom Kopp, James Mallet, more

Pigment Cell & Melanoma Research > 25 > 4 > 411 - 433

Animals display incredibly diverse color patterns yet little is known about the underlying genetic basis of these phenotypes. However, emerging results are reshaping our view of how the process of phenotypic evolution occurs. Here, we outline recent research from three particularly active areas of investigation: melanin pigmentation in Drosophila, wing patterning in butterflies, and pigment variation...

article

Loop-Swapped Chimeras of the Agouti-Related Protein and the Agouti Signaling Protein Identify Contacts Required for Melanocortin 1 Receptor Selectivity and Antagonism

Mira P. Patel, Camila S. Cribb Fabersunne, Ying-kui Yang, Christopher B. Kaelin, more

Journal of Molecular Biology > 2010 > 404 > 1 > 45-55

Agouti-related protein (AgRP) and agouti signaling protein (ASIP) are homologs that play critical roles in energy balance and pigmentation, respectively, by functioning as antagonistic ligands at their cognate melanocortin receptors. Signaling specificity is mediated in part through receptor binding selectivity brought about by alterations in the cysteine-rich carboxy-terminal domains of the ligands...

article

Dominant Role of the p110β Isoform of PI3K over p110α in Energy Homeostasis Regulation by POMC and AgRP Neurons

Hind Al-Qassab, Mark A. Smith, Elaine E. Irvine, Julie Guillermet-Guibert, more

Cell Metabolism > 2009 > 10 > 5 > 343-354

PI3K signaling is thought to mediate leptin and insulin action in hypothalamic pro-opiomelanocortin (POMC) and agouti-related protein (AgRP) neurons, key regulators of energy homeostasis, through largely unknown mechanisms. We inactivated either p110α or p110β PI3K catalytic subunits in these neurons and demonstrate a dominant role for the latter in energy homeostasis regulation. In POMC neurons,...

article

Activation of Stat3 Signaling in AgRP Neurons Promotes Locomotor Activity

Andrea Mesaros, Sergei B. Koralov, Eva Rother, F. Thomas Wunderlich, more

Cell Metabolism > 2008 > 7 > 3 > 236-248

Leptin, an adipocyte-derived hormone, acts on hypothalamic neurons located in the arcuate nucleus (ARC) of the hypothalamus to regulate energy homeostasis. One of the leptin-regulated neuronal subtypes in the ARC are agouti-related peptide (AgRP)-expressing neurons, which are involved in the regulation of food intake and are directly inhibited by leptin. Leptin activates the signal transducer and...

article

Insulin Action in AgRP-Expressing Neurons Is Required for Suppression of Hepatic Glucose Production

A. Christine Könner, Ruth Janoschek, Leona Plum, Sabine D. Jordan, more

Cell Metabolism > 2007 > 5 > 6 > 438-449

Insulin action in the central nervous system regulates energy homeostasis and glucose metabolism. To define the insulin-responsive neurons that mediate these effects, we generated mice with selective inactivation of the insulin receptor (IR) in either pro-opiomelanocortin (POMC)- or agouti-related peptide (AgRP)-expressing neurons of the arcuate nucleus of the hypothalamus. While neither POMC- nor...

article

Structural and Molecular Evolutionary Analysis of Agouti and Agouti-Related Proteins

Pilgrim J. Jackson, Nick R. Douglas, Biaoxin Chai, Jonathan Binkley, more

Chemistry & Biology > 2006 > 13 > 12 > 1297-1305

Agouti (ASIP) and Agouti-related protein (AgRP) are endogenous antagonists of melanocortin receptors that play critical roles in the regulation of pigmentation and energy balance, respectively, and which arose from a common ancestral gene early in vertebrate evolution. The N-terminal domain of ASIP facilitates antagonism by binding to an accessory receptor, but here we show that the N-terminal domain...

article

Structures of the Agouti Signaling Protein

Joseph C. McNulty, Pilgrim J. Jackson, Darren A. Thompson, Biaoxin Chai, more

Journal of Molecular Biology > 2005 > 346 > 4 > 1059-1070

Expression of the agouti signaling protein (ASIP) during hair growth produces the red/yellow pigment pheomelanin. ASIP, and its neuropeptide homolog the agouti-related protein (AgRP) involved in energy balance, are novel, paracrine signaling molecules that act as inverse agonists at distinct subsets of melanocortin receptors. Ubiquitous ASIP expression in mice gives rise to a pleiotropic phenotype...

article

Association of an Agouti allele with fawn or sable coat color in domestic dogs

Tom G. Berryere, Julie A. Kerns, Gregory S. Barsh, Sheila M. Schmutz

Mammalian Genome > 2005 > 16 > 4 > 262-272

The type of pigment synthesized in mammalian hair, yellow–red pheomelanin or black–brown eumelanin, depends on the interaction between Agouti protein and the Melanocortin 1 receptor. Although the genetics of pigmentation is broadly conserved across most mammalian species, pigment type-switching in domestic dogs is unusual because a yellow–tan coat with variable amounts of dark hair is thought to be...

article

Characterization of the dog Agouti gene and a nonagoutimutation in German Shepherd Dogs

Julie A. Kerns, J. Newton, Tom G. Berryere, Edward M. Rubin, more

Mammalian Genome > 2004 > 15 > 10 > 798-808

The interaction between two genes, Agouti and Melanocortin-1 receptor (Mc1r), produces diverse pigment patterns in mammals by regulating the type, amount, and distribution pattern of the two pigment types found in mammalian hair: eumelanin (brown/black) and pheomelanin (yellow/red). In domestic dogs (Canis familiaris), there is a tremendous variation in coat color patterns between and within breeds;...

article

Inverse agonist activity of agouti and agouti-related protein

Biao-Xin Chai, Richard R. Neubig, Glenn L. Millhauser, Darren A. Thompson, more

Peptides > 2003 > 24 > 4 > 603-609

Agouti and agouti-related protein (AgRP) are endogenous antagonists of the melanocortin receptors (MCxR). Previous data showed that recombinant full-length agouti and a synthetic fragment of AgRP, AgRP (83-132), are inverse agonists at the MC1R and MC4R, respectively. This study demonstrates the smaller analogs AgRP (87-120) and ASIP [90-132 (L89Y)], and short peptides Yc[CRFFNAFC]Y and Qc[CRFFRSAC]S...

article

Design, Pharmacology, and NMR Structure of a Minimized Cystine Knot with Agouti-Related Protein Activity ^†

Pilgrim J. Jackson, Joseph C. McNulty, Ying-Kui Yang, Darren A. Thompson, more

Biochemistry > 2002 > 41 > 24 > 7565 - 7572

article

High-Resolution NMR Structure of the Chemically-Synthesized Melanocortin Receptor Binding Domain AGRP(87−132) of the Agouti-Related Protein ^† ^, ^‡

Joseph C. McNulty, Darren A. Thompson, Kimberly A. Bolin, Jill Wilken, more

Biochemistry > 2001 > 40 > 51 > 15520 - 15527

article

Transgenic Expression of Syndecan-1 Uncovers a Physiological Control of Feeding Behavior by Syndecan-3

Ofer Reizes, John Lincecum, Zihua Wang, Olga Goldberger, more

Cell > 2001 > 106 > 1 > 105-116

Transgenic expression in the hypothalamus of syndecan-1, a cell surface heparan sulfate proteoglycan (HSPG) and modulator of ligand-receptor encounters, produces mice with hyperphagia and maturity-onset obesity resembling mice with reduced action of α melanocyte stimulating hormone (αMSH). Via their HS chains, syndecans potentiate the action of agoutirelated protein and agouti signaling protein, endogenous...

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INFONA - science communication portal

Search results for: Gregory S. Barsh

Medical and psychosocial outcomes of state‐funded population genomic screening

Population structure, inbreeding and stripe pattern abnormalities in plains zebras

Periodic patterns in Rodentia: Development and evolution

Genomic diagnosis for children with intellectual disability and/or developmental delay

Comparative tissue transcriptomics highlights dynamic differences among tissues but conserved metabolic transcript prioritization in preparation for arousal from torpor

Electrostatic Similarity Analysis of Human β-Defensin Binding in the Melanocortin System

Molecular and Functional Analysis of Human β-Defensin 3 Action at Melanocortin Receptors

Unraveling the thread of nature’s tapestry: the genetics of diversity and convergence in animal pigmentation

Loop-Swapped Chimeras of the Agouti-Related Protein and the Agouti Signaling Protein Identify Contacts Required for Melanocortin 1 Receptor Selectivity and Antagonism

Dominant Role of the p110β Isoform of PI3K over p110α in Energy Homeostasis Regulation by POMC and AgRP Neurons

Activation of Stat3 Signaling in AgRP Neurons Promotes Locomotor Activity

Insulin Action in AgRP-Expressing Neurons Is Required for Suppression of Hepatic Glucose Production

Structural and Molecular Evolutionary Analysis of Agouti and Agouti-Related Proteins

Structures of the Agouti Signaling Protein

Association of an Agouti allele with fawn or sable coat color in domestic dogs

Characterization of the dog Agouti gene and a nonagoutimutation in German Shepherd Dogs

Inverse agonist activity of agouti and agouti-related protein

Design, Pharmacology, and NMR Structure of a Minimized Cystine Knot with Agouti-Related Protein Activity ^†

High-Resolution NMR Structure of the Chemically-Synthesized Melanocortin Receptor Binding Domain AGRP(87−132) of the Agouti-Related Protein ^† ^, ^‡

Transgenic Expression of Syndecan-1 Uncovers a Physiological Control of Feeding Behavior by Syndecan-3

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