Gene Symbol: ASIP
Description: agouti signaling protein
Alias: AGSW, AGTI, AGTIL, ASP, SHEP9, agouti-signaling protein, agouti signaling protein, nonagouti homolog, agouti switch protein, nonagouti homolog
Species: human
Products:     ASIP

Top Publications

  1. Gudbjartsson D, Sulem P, Stacey S, Goldstein A, Rafnar T, Sigurgeirsson B, et al. ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. Nat Genet. 2008;40:886-91 pubmed publisher
    ..A haplotype near ASIP, known to affect a similar spectrum of pigmentation traits as MC1R variants, conferred significant risk of CM (odds ..
  2. Fernandez L, Milne R, Pita G, Avilés J, Lazaro P, Benitez J, et al. SLC45A2: a novel malignant melanoma-associated gene. Hum Mutat. 2008;29:1161-7 pubmed publisher
    ..A total of 23 SNPs in six candidate genes (ASP, OCA2, TYR, TYRP1, SILV, and SLC45A) belonging to the pigmentation pathway were genotyped...
  3. Nan H, Kraft P, Hunter D, Han J. Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. Int J Cancer. 2009;125:909-17 pubmed publisher
    ..the associations between 15 SNPs in 8 candidate pigmentation genes (TYR, TYRP1, OCA2, SLC24A5, SLC45A2, POMC, ASIP and ATRN) and both pigmentary phenotypes (hair color, skin color and tanning ability) and skin cancer risk in a ..
  4. Duffy D, Zhao Z, Sturm R, Hayward N, Martin N, Montgomery G. Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. J Invest Dermatol. 2010;130:520-8 pubmed publisher
    ..this paper, we test a selected set of polymorphisms in pigmentation loci (ASIP (Agouti signalling protein, nonagouti homolog (mouse) gene), TYR (tyrosinase), TYRP1 (tyrosinase-related protein 1), MC1R, OCA2, IRF4 (interferon ..
  5. Robic A, Morisson M, Leroux S, Gourichon D, Vignal A, Thebault N, et al. Two new structural mutations in the 5' region of the ASIP gene cause diluted feather color phenotypes in Japanese quail. Genet Sel Evol. 2019;51:12 pubmed publisher
    In quail, two feather colour phenotypes i.e. fawn-2/beige and yellow are associated with the ASIP locus...
  6. Nix M, Kaelin C, Ta T, Weis A, Morton G, Barsh G, et al. Molecular and functional analysis of human β-defensin 3 action at melanocortin receptors. Chem Biol. 2013;20:784-95 pubmed publisher
    ..stimulatory agonists such as α-melanocyte stimulating hormone or inhibitory inverse agonists such as Agouti signaling protein (ASIP) and Agouti-related protein (AGRP)...
  7. Nakamura K, Tozaki T, Kakoi H, Owada S, Takasu M. Variation in the MC1R, ASIP, and MATP genes responsible for coat color in Kiso horse as determined by SNaPshot™ genotyping. J Vet Med Sci. 2019;81:100-102 pubmed publisher clarify coat color gene variation in Kiso horses, we used SNaPshot™ genotyping to evaluate variation in MC1R, ASIP, and MATP genes at the Extension (E), Agouti (A), and Cream dilution (C) loci...
  8. Zaorska K, Zawierucha P, Nowicki M. Prediction of skin color, tanning and freckling from DNA in Polish population: linear regression, random forest and neural network approaches. Hum Genet. 2019;: pubmed publisher
    ..traits, but also variants associated solely with certain pigmentation traits, namely rs6058017 and rs4911414 (ASIP) with skin sensitivity to sun and tanning abilities, rs12203592 (IRF4) with freckling and rs4778241 and rs4778138 (..
  9. Swope V, Jameson J, McFarland K, Supp D, Miller W, McGraw D, et al. Defining MC1R regulation in human melanocytes by its agonist α-melanocortin and antagonists agouti signaling protein and β-defensin 3. J Invest Dermatol. 2012;132:2255-62 pubmed publisher
    ..Pretreatment with agouti signaling protein or HBD3 prohibited responsiveness to α-MSH, but not forskolin, suggesting receptor desensitization by ..

More Information


  1. Chatzinasiou F, Lill C, Kypreou K, Stefanaki I, Nicolaou V, Spyrou G, et al. Comprehensive field synopsis and systematic meta-analyses of genetic association studies in cutaneous melanoma. J Natl Cancer Inst. 2011;103:1227-35 pubmed publisher
    ..3 (MC1R), 20q11.22 (MYH7B/PIGU/ASIP), 11q14.3 (TYR), and 5p13.2 (SLC45A2)...
  2. Cal L, Suarez Bregua P, Comesaña P, Owen J, Braasch I, Kelsh R, et al. Countershading in zebrafish results from an Asip1 controlled dorsoventral gradient of pigment cell differentiation. Sci Rep. 2019;9:3449 pubmed publisher
    ..In mammals, spatially regulated expression of agouti-signaling protein (ASIP) generates the difference in shading by driving a switch between the production of chemically-distinct melanins in ..
  3. Liu M, Zhou Y, Rosen B, van Tassell C, Stella A, Tosser Klopp G, et al. Diversity of copy number variation in the worldwide goat population. Heredity (Edinb). 2019;122:636-646 pubmed publisher
    ..g. EDNRA, ADAMTS20, ASIP, KDM5B, ADAM8, DGAT1, CHRNB1, CLCN7, and EXOSC4), which are involved in local adaptations such as coat color, ..
  4. Liu X, Chen G, He X. [Sperm DNA damage is not related to seminal leukocyte subsets in infertile males with asymptomatic genital tract infection]. Zhonghua Nan Ke Xue. 2018;24:45-49 pubmed
    ..of leukocyte subsets with sperm DNA damage in the semen of infertile men with asymptomatic genital tract infection (AGTI). This study included 111 infertile males with AGTI...
  5. Hart K, Kimura S, Mushailov V, Budimlija Z, Prinz M, Wurmbach E. Improved eye- and skin-color prediction based on 8 SNPs. Croat Med J. 2013;54:248-56 pubmed HERC2, rs1545397 at OCA2, rs16891982 at SLC45A2, rs1426654 at SLC24A5, rs885479 at MC1R, rs6119471 at ASIP, and rs12203592 at IRF4)...
  6. Datta P, Philipsen P, Olsen P, Petersen B, Andersen J, Morling N, et al. Pigment genes not skin pigmentation affect UVB-induced vitamin D. Photochem Photobiol Sci. 2019;18:448-458 pubmed publisher
    ..linear model was not explained by measured skin pigmentation but by sex, height, age and seven SNPs located in the ASIP, MTAP, MIR196A29 and Solute Carrier Family genes...
  7. Wang L, Zhu W, Dong Z, Song F, Dong J, Fu J. Comparative microRNA-seq Analysis Depicts Candidate miRNAs Involved in Skin Color Differentiation in Red Tilapia. Int J Mol Sci. 2018;19: pubmed publisher
    ..miRNAs showed that a variety of putative target genes—including slc7a11, mc1r and asip—played potential roles in pigmentation...
  8. Fallahshahroudi A, Løtvedt P, Beltéky J, Altimiras J, Jensen P. Changes in pituitary gene expression may underlie multiple domesticated traits in chickens. Heredity (Edinb). 2019;122:195-204 pubmed publisher
    ..Amongst them, expression levels of genes with inhibitory function on pigmentation (ASIP), main stimulators of metabolism and sexual maturity (TSHB and DIO2), and a potential inhibitor of broodiness (PRLR)..
  9. Ma Y, Ding X, Qanbari S, Weigend S, Zhang Q, Simianer H. Properties of different selection signature statistics and a new strategy for combining them. Heredity (Edinb). 2015;115:426-36 pubmed publisher
    ..Our analysis suggests that a set of well-known genes such as BCO2, MC1R, ASIP and TYR were involved in the divergent selection for this trait.
  10. Gluckman T, Mundy N. The differential expression of MC1R regulators in dorsal and ventral quail plumages during embryogenesis: Implications for plumage pattern formation. PLoS ONE. 2017;12:e0174714 pubmed publisher
    ..inhibition-agouti signaling and agouti-related protein (ASIP and AGRP, respectively)...
  11. Wu X, Zhang Y, Shen L, Du J, Luo J, Liu C, et al. A 6-bp deletion in exon 8 and two mutations in introns of TYRP1 are associated with blond coat color in Liangshan pigs. Gene. 2016;578:132-6 pubmed publisher
    Melanocortin receptor 1 (MC1R), Agouti signaling protein (ASIP), and Tyrosinase-related protein 1 (TYRP1) are reported critical genes that regulate pheomelanin and eumelanin synthesis in mammals...
  12. Xu L, Bickhart D, Cole J, Schroeder S, Song J, Tassell C, et al. Genomic signatures reveal new evidences for selection of important traits in domestic cattle. Mol Biol Evol. 2015;32:711-25 pubmed publisher
    ..In addition to well-known genes such as KIT, MC1R, ASIP, GHR, LCORL, NCAPG, WIF1, and ABCA12, we found evidence for a variety of novel and less-known genes under selection ..
  13. Schneider A, Henegar C, Day K, Absher D, Napolitano C, Silveira L, et al. Recurrent evolution of melanism in South American felids. PLoS Genet. 2015;11:e1004892 pubmed publisher
    ..We identify mutations of Agouti signaling protein (ASIP) or the Melanocortin 1 receptor (MC1R) as independent causes of melanism in three closely related ..
  14. Ceinos R, Guillot R, Kelsh R, Cerdá Reverter J, Rotllant J. Pigment patterns in adult fish result from superimposition of two largely independent pigmentation mechanisms. Pigment Cell Melanoma Res. 2015;28:196-209 pubmed publisher
    ..pattern is controlled by regulating melanin chemistry in melanocytes using a protein, agouti-signalling peptide (ASIP)...
  15. Cal L, Suarez Bregua P, Cerdá Reverter J, Braasch I, Rotllant J. Fish pigmentation and the melanocortin system. Comp Biochem Physiol A Mol Integr Physiol. 2017;211:26-33 pubmed publisher
    ..Mc1r), its agonist α-melanocyte stimulating hormone (α-Msh), and the endogenous antagonist agouti signaling protein (Asip1) are the main players...
  16. Ito K, Bahry M, Hui Y, Furuse M, Chowdhury V. Acute heat stress up-regulates neuropeptide Y precursor mRNA expression and alters brain and plasma concentrations of free amino acids in chicks. Comp Biochem Physiol A Mol Integr Physiol. 2015;187:13-9 pubmed publisher
    ..HT also increased the expression of neuropeptide Y (NPY) and agouti-signaling protein (ASIP) precursor mRNA, while no change was observed in pro-opiomelanocortin, cholecystokinin, ghrelin, or corticotropin-..
  17. Dong Y, Zhang X, Xie M, Arefnezhad B, Wang Z, Wang W, et al. Reference genome of wild goat (capra aegagrus) and sequencing of goat breeds provide insight into genic basis of goat domestication. BMC Genomics. 2015;16:431 pubmed publisher
    ..Thirteen copy number variation genes associated with coat color were identified in domestic goats, among which ASIP gene duplication contributes to the generation of light coat-color phenotype in domestic goats...
  18. San Jose L, Ducrest A, Ducret V, Simon C, Richter H, Wakamatsu K, et al. MC1R variants affect the expression of melanocortin and melanogenic genes and the association between melanocortin genes and coloration. Mol Ecol. 2017;26:259-276 pubmed publisher
    ..genes (TYR, TYRP1, OCA2, SLC45A2, KIT, DCT) but also with a lower MC1R expression and a higher expression of ASIP, the MC1R antagonist...
  19. Abitbol M, Legrand R, Tiret L. A missense mutation in the agouti signaling protein gene (ASIP) is associated with the no light points coat phenotype in donkeys. Genet Sel Evol. 2015;47:28 pubmed publisher
    ..resembles that of the mammalian recessive black phenotype; both phenotypes are associated with the agouti signaling protein gene (ASIP). We used a panel of 127 donkeys to identify a recessive missense c...
  20. Gershony L, Penedo M, Davis B, Murphy W, Helps C, Lyons L. Who's behind that mask and cape? The Asian leopard cat's Agouti (ASIP) allele likely affects coat colour phenotype in the Bengal cat breed. Anim Genet. 2014;45:893-7 pubmed publisher
    ..A 2-bp deletion in agouti signalling protein (ASIP) is associated with melanism in domestic cats...
  21. Han J, Yang M, Yue Y, Guo T, Liu J, Niu C, et al. Analysis of agouti signaling protein (ASIP) gene polymorphisms and association with coat color in Tibetan sheep (Ovis aries). Genet Mol Res. 2015;14:1200-9 pubmed publisher
    ..The agouti signaling protein (ASIP) gene is a positional candidate gene, as was inferred based on previous study...
  22. Liu F, Visser M, Duffy D, Hysi P, Jacobs L, Lao O, et al. Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up. Hum Genet. 2015;134:823-35 pubmed publisher
    ..Our GWAS provide the first genome-wide significant evidence for chromosome 20q11.22 harboring the ASIP gene being explicitly associated with skin color in Europeans. In addition, genomic loci at 5p13.2 (SLC45A2), 6p25...
  23. Zhao H, Li K, Tang J, Zhou J, Wang K, Xia X, et al. Expression of Selenoprotein Genes Is Affected by Obesity of Pigs Fed a High-Fat Diet. J Nutr. 2015;145:1394-401 pubmed publisher
    ..Meanwhile, agouti signaling protein, adiponectin, and resistin genes represented the strongest independent variables of the obesity-related ..
  24. Rochus C, Tortereau F, Plisson Petit F, Restoux G, Moreno Romieux C, Tosser Klopp G, et al. Revealing the selection history of adaptive loci using genome-wide scans for selection: an example from domestic sheep. BMC Genomics. 2018;19:71 pubmed publisher
    ..targets in many species ("selection hotspots") including ABCG2, LCORL/NCAPG, MSTN, and coat colour genes such as ASIP, MC1R, MITF, and TYRP1...
  25. Mizusawa K, Yamamura Y, Kasagi S, Cerdá Reverter J, Takahashi A. Expression of genes for melanotropic peptides and their receptors for morphological color change in goldfish Carassius auratus. Gen Comp Endocrinol. 2018;264:138-150 pubmed publisher
    ..Agouti-signaling protein (asp) mRNA was detected in the ventral skin but not in the dorsal skin...
  26. Matsuda N, Kasagi S, Nakamaru T, Masuda R, Takahashi A, Tagawa M. Left-right pigmentation pattern of Japanese flounder corresponds to expression levels of melanocortin receptors (MC1R and MC5R), but not to agouti signaling protein 1 (ASIP1) expression. Gen Comp Endocrinol. 2018;262:90-98 pubmed publisher
    ..In the dorso-ventral coloration (countershading) of other teleost fishes, ventral-specific expression of agouti signaling protein 1 (ASIP1), an endogenous antagonist of melanocortin 1 receptor (MC1R), has been reported to play a ..
  27. Zhang J, Wang C, Liu Y, Liu J, Wang H, Liu A, et al. Agouti signalling protein (ASIP) gene: molecular cloning, sequence characterisation and tissue distribution in domestic goose. Br Poult Sci. 2016;57:288-94 pubmed publisher
    Agouti signalling protein (ASIP) is an endogenous antagonist of melanocortin-1 receptor (MC1R) and is involved in the regulation of pigmentation in mammals...
  28. Wang X, Niu Y, Zhou J, Yu H, Kou Q, Lei A, et al. Multiplex gene editing via CRISPR/Cas9 exhibits desirable muscle hypertrophy without detectable off-target effects in sheep. Sci Rep. 2016;6:32271 pubmed publisher sheep by co-injecting one-cell-stage embryos with Cas9 mRNA and RNA guides targeting three genes (MSTN, ASIP, and BCO2)...
  29. Dijkstra P, Maguire S, Harris R, Rodriguez A, DeAngelis R, Flores S, et al. The melanocortin system regulates body pigmentation and social behaviour in a colour polymorphic cichlid fish. Proc Biol Sci. 2017;284: pubmed publisher
    ..Exogenous agouti signalling peptide (ASIP), a melanocortin antagonist, did not affect coloration but reduced the rate of aggression in both colour morphs...
  30. Ryu S, Johnson A, Park Y, Kim B, Norris D, Armstrong C, et al. The Alpha-Melanocyte-Stimulating Hormone Suppresses TLR2-Mediated Functional Responses through IRAK-M in Normal Human Keratinocytes. PLoS ONE. 2015;10:e0136887 pubmed publisher
    ..The inhibitory effect of α-MSH was blocked by agouti signaling protein (ASP), an α-MSH receptor-1 antagonist...
  31. Jacobs L, Staiger E, Albright J, Brooks S. The MC1R and ASIP Coat Color Loci May Impact Behavior in the Horse. J Hered. 2016;107:214-9 pubmed publisher
    ..base coat color is primarily determined by polymorphisms at the Melanocortin-1 Receptor (MC1R) and Agouti Signaling Protein (ASIP) loci, creating a black, bay, or chestnut coat...
  32. Jonnalagadda M, Norton H, Ozarkar S, Kulkarni S, Ashma R. Association of genetic variants with skin pigmentation phenotype among populations of west Maharashtra, India. Am J Hum Biol. 2016;28:610-8 pubmed publisher
    ..SNPs) known to play a role in pigmentation (rs1426654-SLC24A5, rs1042602-TYR, rs16891982-SLC45A2, rs6058017-ASIP, and rs642742-KITLG) and MI measures were tested using standard one-way analysis of variance (ANOVA) within each ..
  33. Bobak N, Feliciangeli S, Chen C, Ben Soussia I, Bittner S, Pagnotta S, et al. Recombinant tandem of pore-domains in a Weakly Inward rectifying K+ channel 2 (TWIK2) forms active lysosomal channels. Sci Rep. 2017;7:649 pubmed publisher
    ..Sequential inactivation of tyrosine-based (Y308ASIP) and di-leucine-like (E266LILL and D282EDDQVDIL) trafficking motifs progressively abolishes ..
  34. Cal L, Megias M, Cerdá Reverter J, Postlethwait J, Braasch I, Rotllant J. BAC Recombineering of the Agouti Loci from Spotted Gar and Zebrafish Reveals the Evolutionary Ancestry of Dorsal-Ventral Pigment Asymmetry in Fish. J Exp Zool B Mol Dev Evol. 2017;328:697-708 pubmed publisher
    ..In mammals, this countershading depends on differential expression of agouti-signaling protein (ASIP), which drives a switch of synthesis of one type of melanin to another within melanocytes...
  35. Wang G, Cheng L, Fan R, Irwin D, Tang S, Peng J, et al. Signature of balancing selection at the MC1R gene in Kunming dog populations. PLoS ONE. 2013;8:e55469 pubmed publisher
    ..pathway, and is regulated by three genes in dogs: MC1R (melanocortin receptor 1), CBD103 (β-defensin 103), and ASIP (agouti-signaling protein precursor)...
  36. Kansal R, McCravy M, Basham J, Earl J, McMurray S, Starner C, et al. Inhibition of melanocortin 1 receptor slows melanoma growth, reduces tumor heterogeneity and increases survival. Oncotarget. 2016;7:26331-45 pubmed publisher
    ..Inhibition of MC1R by its physiologically relevant competitive inhibitor, agouti signaling protein (ASIP), reduced melanin synthesis and morphological heterogeneity in murine B16-F10 melanoma cells...
  37. Jarrett S, Wolf Horrell E, Boulanger M, D Orazio J. Defining the Contribution of MC1R Physiological Ligands to ATR Phosphorylation at Ser435, a Predictor of DNA Repair in Melanocytes. J Invest Dermatol. 2015;135:3086-3095 pubmed publisher
    ..In contrast, MC1R antagonists agouti signaling protein (ASIP) or human β-defensin 3 (HBD3) interfere with ATR-pS435 generation, impair the XPA-DNA interaction, ..
  38. Burren A, Neuditschko M, Signer Hasler H, Frischknecht M, Reber I, Menzi F, et al. Genetic diversity analyses reveal first insights into breed-specific selection signatures within Swiss goat breeds. Anim Genet. 2016;47:727-739 pubmed publisher
    ..The 25 most significant windows contained genes known for traits such as: coat color variation (MITF, KIT, ASIP), growth (IGF2, IGF2R, HRAS, FGFR3) and milk composition (PITX2)...
  39. Li Y, Si S, Guo P, Li L, Bai C, Yan S. Cloning and identification of the ASIP gene in Chinese raccoon dog (Nyctereutes procyonoides procyonoides). Genet Mol Res. 2015;14:16312-6 pubmed publisher
    ..The ASIP gene is an important candidate gene for coat color variation in some species...
  40. Guillot R, Cortés R, Navarro S, Mischitelli M, García Herranz V, Sánchez E, et al. Behind melanocortin antagonist overexpression in the zebrafish brain: A behavioral and transcriptomic approach. Horm Behav. 2016;82:87-100 pubmed publisher
    Melanocortin signaling is regulated by the binding of naturally occurring antagonists, agouti-signaling protein (ASIP) and agouti-related protein (AGRP) that compete with melanocortin peptides by binding to melanocortin receptors to ..
  41. Campana M, Parker L, Hawkins M, Young H, Helgen K, Szykman Gunther M, et al. Genome sequence, population history, and pelage genetics of the endangered African wild dog (Lycaon pictus). BMC Genomics. 2016;17:1013 pubmed
    ..We documented positive selection on the Lycaon mitochondrial genome. Finally, we identified several candidate genes (ASIP, MITF, MLPH, PMEL) that may play a role in the characteristic Lycaon pelage.
  42. Santos M, Baldo L, Gu L, Boileau N, Musilová Z, Salzburger W. Comparative transcriptomics of anal fin pigmentation patterns in cichlid fishes. BMC Genomics. 2016;17:712 pubmed publisher
    ..gene fhl2a, two known patterning genes (hoxC12a and bmp3) as well as other pigmentation related genes such as asip. Finally, we analyzed the expression patterns of the same gene subset in two species that feature blotches instead ..
  43. Xin Y, Li W, Zhang Z, Cheung R, Song D, Berger T. An Application Specific Instruction Set Processor (ASIP) for Adaptive Filters in Neural Prosthetics. IEEE/ACM Trans Comput Biol Bioinform. 2015;12:1034-47 pubmed publisher
    ..In this research work, we explore an application specific instruction set processor (ASIP) for adaptive filters in neural decoding activity...
  44. Hepp D, Gonçalves G, Moreira G, De Freitas T. Epistatic Interaction of the Melanocortin 1 Receptor and Agouti Signaling Protein Genes Modulates Wool Color in the Brazilian Creole Sheep. J Hered. 2016;107:544-52 pubmed publisher
    ..The melanocortin 1 receptor (MC1R), agouti signaling protein (ASIP), tyrosinase-related protein 1 (TYRP1), and v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene ..
  45. Sorbolini S, Gaspa G, Steri R, Dimauro C, Cellesi M, Stella A, et al. Use of canonical discriminant analysis to study signatures of selection in cattle. Genet Sel Evol. 2016;48:58 pubmed publisher have an impact on production and morphological bovine traits, including MSTN, LCT, GHR, SCD, NCAPG, KIT, and ASIP. Moreover, new putative candidate genes were identified, such as GCK, B3GALNT1, MGAT1, GALNTL1, PRNP, and PRND...
  46. Han M, Lu J, Zhang G, Yu J, Zhao R. Mechanistic Studies on the Use of Polygonum multiflorum for the Treatment of Hair Graying. Biomed Res Int. 2015;2015:651048 pubmed publisher
    ..The regulation effects of several cytokines and enzymes such as POMC, α-MSH, MC1R, ASIP, MITF, TYR, TRP-1, and TRP-2 were investigated...
  47. Toews D, Taylor S, Vallender R, Brelsford A, Butcher B, Messer P, et al. Plumage Genes and Little Else Distinguish the Genomes of Hybridizing Warblers. Curr Biol. 2016;26:2313-8 pubmed publisher
    ..divergence peaks occur in proximity to genes known to be involved in feather development or pigmentation: agouti signaling protein (ASIP), follistatin (FST), ecodysplasin (EDA), wingless-related integration site (Wnt), and beta-carotene ..
  48. Macgregor S, Montgomery G, Liu J, Zhao Z, Henders A, Stark M, et al. Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3. Nat Genet. 2011;43:1114-8 pubmed publisher
    ..In this discovery phase, we confirm several previously characterized melanoma-associated loci at MC1R, ASIP and MTAP-CDKN2A...
  49. Zhang Y, Liu J, Peng L, Ren L, Zhang H, Zou L, et al. Comparative transcriptome analysis of molecular mechanism underlying gray-to-red body color formation in red crucian carp (Carassius auratus, red var.). Fish Physiol Biochem. 2017;43:1387-1398 pubmed publisher
    ..involved in the signaling pathway of pigment synthesis, such as the melanogenesis genes (Mitfa, Pax3a, Foxd3, Mc1r, Asip); tyrosine metabolism genes (Tyr, Dct, Tyrp1, Silva, Tat, Hpda); and pteridine metabolism genes (Gch, Xdh, Ptps, Tc)..
  50. Kanetsky P, Swoyer J, Panossian S, Holmes R, Guerry D, Rebbeck T. A polymorphism in the agouti signaling protein gene is associated with human pigmentation. Am J Hum Genet. 2002;70:770-5 pubmed
    ..In the mouse, ligation of MSHR by agouti signaling protein (ASP) results in the production of pheomelanin. The role of ASP in humans is unclear...
  51. Voisey J, Kelly G, van Daal A. Agouti signal protein regulation in human melanoma cells. Pigment Cell Res. 2003;16:65-71 pubmed
    ..role of agouti in mouse pigmentation has been extensively investigated but a role for agouti signalling protein (ASIP) in human pigmentation has not been determined...
  52. Ebnet K, Suzuki A, Horikoshi Y, Hirose T, Meyer Zu Brickwedde M, Ohno S, et al. The cell polarity protein ASIP/PAR-3 directly associates with junctional adhesion molecule (JAM). EMBO J. 2001;20:3738-48 pubmed
    ..Recently, vertebrate orthologues of two of these proteins, ASIP/PAR-3 and PAR-6, were found to form a signalling complex with the small GTPases Cdc42/Rac1 and with atypical ..
  53. Brudnik U, Branicki W, Wojas Pelc A, Kanas P. The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population. Exp Dermatol. 2009;18:167-74 pubmed publisher
    In this study, we assessed the role of melanocortin-1 receptor (MC1R) and agouti signalling protein (ASIP) polymorphisms in cutaneous melanoma and basal cell carcinoma (BCC) development in a Polish population...
  54. Xue B, Moustaid N -, Wilkison W, Zemel M. The agouti gene product inhibits lipolysis in human adipocytes via a Ca2+-dependent mechanism. FASEB J. 1998;12:1391-6 pubmed
    ..This effect, combined with agouti-induced lipogenesis, represents a coordinate control of adipocyte lipid metabolism that may contribute to an agouti-induced obesity syndrome. ..
  55. Smith S, Gawronska Kozak B, Janderová L, Nguyen T, Murrell A, Stephens J, et al. Agouti expression in human adipose tissue: functional consequences and increased expression in type 2 diabetes. Diabetes. 2003;52:2914-22 pubmed
    ..The influence of MCR signaling on adipogenesis combined with the well-established role of MCR signaling in the hypothalamus suggest that adipogenesis is coordinately regulated with food intake and energy expenditure. ..
  56. Maccioni L, Rachakonda P, Scherer D, Bermejo J, Planelles D, Requena C, et al. Variants at chromosome 20 (ASIP locus) and melanoma risk. Int J Cancer. 2013;132:42-54 pubmed publisher
    b>Agouti signaling protein (ASIP) locus on chromosome 20q11 is implicated, as shown by genome-wide association studies, in phenotype variation and melanoma risk...
  57. Bonilla C, Boxill L, Donald S, Williams T, Sylvester N, Parra E, et al. The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans. Hum Genet. 2005;116:402-6 pubmed
    ..The lighter pigment phaeomelanin is the product of the antagonistic function of the agouti signaling protein (ASIP) on the alpha-melanocyte stimulating hormone receptor (MC1R)...
  58. Taylor N, Reiner A, Begg C, Cust A, Busam K, Anton Culver H, et al. Inherited variation at MC1R and ASIP and association with melanoma-specific survival. Int J Cancer. 2015;136:2659-67 pubmed publisher
    ..In addition, we evaluated haplotypes involving polymorphisms near the Agouti signaling protein gene (ASIP) locus for their impacts on survival...
  59. Zeigler Johnson C, Panossian S, Gueye S, Jalloh M, Ofori Adjei D, Kanetsky P. Population differences in the frequency of the agouti signaling protein g.8818a>G polymorphism. Pigment Cell Res. 2004;17:185-7 pubmed
    The role of agouti signaling protein (ASIP) in human pigmentation pathways is not definitively understood although its murine homologue regulates, in part, pheomelanogenesis...
  60. Hernando B, Ibàñez M, Deserio Cuesta J, Soria Navarro R, Vilar Sastre I, Martinez Cadenas C. Genetic determinants of freckle occurrence in the Spanish population: Towards ephelides prediction from human DNA samples. Forensic Sci Int Genet. 2018;33:38-47 pubmed publisher
    ..Four loci were associated with freckling (MC1R, IRF4, ASIP and BNC2), and female sex was also found to be a predictive factor for having a freckling phenotype in our ..
  61. Voisey J, Imbeault P, Hutley L, Prins J, van Daal A. Body mass index-related human adipocyte agouti expression is sex-specific but not depot-specific. Obes Res. 2002;10:447-52 pubmed
    To determine if human adipocyte agouti signal protein (ASIP) mRNA expression is associated with obesity and is gender and/or depot specific...
  62. Stryjewski K, Sorenson M. Mosaic genome evolution in a recent and rapid avian radiation. Nat Ecol Evol. 2017;1:1912-1922 pubmed publisher
    ..but also identify a limited number of divergent autosomal regions, several of which overlap known colour genes (ASIP, EDN3, IGSF11, KITLG, MC1R and SOX10)...
  63. Song X, Xu C, Liu Z, Yue Z, Liu L, Yang T, et al. Comparative Transcriptome Analysis of Mink (Neovison vison) Skin Reveals the Key Genes Involved in the Melanogenesis of Black and White Coat Colour. Sci Rep. 2017;7:12461 pubmed publisher
    ..were not observed in the expression of MC1R and TYR between the two different coat colours, and the expression of ASIP was not detected in the mink skin of either coat colour...
  64. Jarrett S, Carter K, Shelton B, D Orazio J. The melanocortin signaling cAMP axis accelerates repair and reduces mutagenesis of platinum-induced DNA damage. Sci Rep. 2017;7:11708 pubmed publisher
    ..MC1R antagonists human beta-defensin 3 and agouti signaling protein blocked MSH- but not forskolin-mediated enhancement of platinum-induced DNA damage...
  65. Zhang X, Li W, Liu C, Peng X, Lin J, He S, et al. Alteration of sheep coat color pattern by disruption of ASIP gene via CRISPR Cas9. Sci Rep. 2017;7:8149 pubmed publisher
    ..Aiming at alteration of Chinese merino sheep coat color by genome manipulation, we disrupted sheep agouti signaling protein gene by CRISPR/Cas9. A total of seven indels were identified in 5 of 6 born lambs...
  66. Kwon H, Bultman S, Loffler C, Chen W, Furdon P, Powell J, et al. Molecular structure and chromosomal mapping of the human homolog of the agouti gene. Proc Natl Acad Sci U S A. 1994;91:9760-4 pubmed
    ..Initial expression studies with RNA from several adult human tissues showed that the human agouti gene is expressed in adipose tissue and testis. ..
  67. Jacobs L, Hamer M, Gunn D, Deelen J, Lall J, van Heemst D, et al. A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots. J Invest Dermatol. 2015;135:1735-1742 pubmed publisher
    ..8 × 10(-27)), MC1R (compound heterozygosity score, P=2.3 × 10(-24)), and RALY/ASIP (rs6059655, P=1.9 × 10(-9))...
  68. Voisey J, Gomez Cabrera M, Smit D, Leonard J, Sturm R, van Daal A. A polymorphism in the agouti signalling protein (ASIP) is associated with decreased levels of mRNA. Pigment Cell Res. 2006;19:226-31 pubmed
    To date, a role for agouti signalling protein (ASIP) in human pigmentation has not been well characterized. It is known that agouti plays a pivotal role in the pigment switch from the dark eumelanin to the light pheomelanin in the mouse...
  69. McNulty J, Jackson P, Thompson D, Chai B, Gantz I, Barsh G, et al. Structures of the agouti signaling protein. J Mol Biol. 2005;346:1059-70 pubmed
    Expression of the agouti signaling protein (ASIP) during hair growth produces the red/yellow pigment pheomelanin...
  70. Zhang M, Song F, Liang L, Nan H, Zhang J, Liu H, et al. Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. Hum Mol Genet. 2013;22:2948-59 pubmed publisher
    ..0 × 10(-8); P = 6.6 × 10(-7) in the discovery set and P = 3.0 × 10(-3) in the replication set) and rs8015138 upstream of GNG2 (P = 6.6 × 10(-8); P = 5.3 × 10(-7) in the discovery set and P = 0.01 in the replication set). ..
  71. Landi M, Kanetsky P, Tsang S, Gold B, Munroe D, Rebbeck T, et al. MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population. J Natl Cancer Inst. 2005;97:998-1007 pubmed
    ..MC1R) gene have been associated with fair pigmentation and melanoma risk, and a polymorphism of the Agouti Signaling Protein (ASIP) gene has been associated with dark pigmentation...
  72. Wilson B, Ollmann M, Kang L, Stoffel M, Bell G, Barsh G. Structure and function of ASP, the human homolog of the mouse agouti gene. Hum Mol Genet. 1995;4:223-30 pubmed
    ..The human agouti gene, named Agouti Signaling Protein (ASP), encodes a 132 amino acid protein, the mRNA for which is expressed in testis, ovary, and heart, and ..
  73. Yang Y, Ollmann M, Wilson B, Dickinson C, Yamada T, Barsh G, et al. Effects of recombinant agouti-signaling protein on melanocortin action. Mol Endocrinol. 1997;11:274-80 pubmed
    ..In this study we report the effects of agouti-signaling protein (ASIP), the human homolog of mouse agouti, on the action of alpha-MSH or ACTH at the five known human melanocortin ..
  74. Sulem P, Gudbjartsson D, Stacey S, Helgason A, Rafnar T, Magnusson K, et al. Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat Genet. 2007;39:1443-52 pubmed
    ..3 is associated with freckles. The fifth region provided refinements to a previously reported association in OCA2, and the sixth encompasses previously described variants in MC1R. ..
  75. Menyhért J, Wittmann G, Lechan R, Keller E, Liposits Z, Fekete C. Cocaine- and amphetamine-regulated transcript (CART) is colocalized with the orexigenic neuropeptide Y and agouti-related protein and absent from the anorexigenic alpha-melanocyte-stimulating hormone neurons in the infundibular nucleus of the human h. Endocrinology. 2007;148:4276-81 pubmed
  76. Patel M, Cribb Fabersunne C, Yang Y, Kaelin C, Barsh G, Millhauser G. Loop-swapped chimeras of the agouti-related protein and the agouti signaling protein identify contacts required for melanocortin 1 receptor selectivity and antagonism. J Mol Biol. 2010;404:45-55 pubmed publisher
    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...
  77. Barrett J, Iles M, Harland M, Taylor J, Aitken J, Andresen P, et al. Genome-wide association study identifies three new melanoma susceptibility loci. Nat Genet. 2011;43:1108-13 pubmed publisher
    ..6 × 10(-7) under a fixed-effects model and P = 1.2 × 10(-3) under a random-effects model). These newly associated variants showed no association with nevus or pigmentation phenotypes in a large British case-control series. ..
  78. Sasamori S, Wiewel A, Thomson V, Kobayashi M, Nakata K, Suzuki H. Potential Causative Mutation for Melanism in Rats Identified in the Agouti Signaling Protein Gene (Asip) of the Rattus rattus Species Complex on Okinawa Island, Japan. Zoolog Sci. 2017;34:513-522 pubmed publisher fur, or melanism, in many mammalian species is known to be linked to DNA sequence variation in the agouti signaling protein (Asip) gene, which is a major determinant of eumelanin and pheomelanin pigments in coat color...
  79. Ericson M, Freeman K, Schnell S, Fleming K, Haskell Luevano C. Structure-Activity Relationship Studies on a Macrocyclic Agouti-Related Protein (AGRP) Scaffold Reveal Agouti Signaling Protein (ASP) Residue Substitutions Maintain Melanocortin-4 Receptor Antagonist Potency and Result in Inverse Agonist Pharmacology. J Med Chem. 2017;60:8103-8114 pubmed publisher
    ..receptors, agonists from the proopiomelanocortin gene transcript, and two antagonists, agouti-signaling protein (ASP) and agouti-related protein (AGRP)...
  80. Albrecht E, Schering L, Liu Y, Komolka K, Kuhn C, Wimmers K, et al. TRIENNIAL GROWTH AND DEVELOPMENT SYMPOSIUM: Factors influencing bovine intramuscular adipose tissue development and cellularity. J Anim Sci. 2017;95:2244-2254 pubmed publisher
    ..Such factors with potential influence on IMF, among them, agouti signaling protein and thrombospondin 4, were identified in transcriptome analyses and further investigated...
  81. Lima F, de Araújo Lima F, Gonçalves F, de Toledo Gonçalves F, Fridman C, Fridman C. SLC24A5 and ASIP as phenotypic predictors in Brazilian population for forensic purposes. Leg Med (Tokyo). 2015;17:261-6 pubmed publisher
    ..Herein, we evaluated the association between polymorphisms in the genes SLC24A5 (rs1426654) and ASIP (rs6058017) with skin, eyes and hair colors, in 483 healthy individuals from Brazilian population for attainable ..
  82. Uy J, Cooper E, Cutie S, Concannon M, Poelstra J, Moyle R, et al. Mutations in different pigmentation genes are associated with parallel melanism in island flycatchers. Proc Biol Sci. 2016;283: pubmed publisher
    ..island over 100 km away share an amino acid substitution in a predicted binding site of agouti signalling protein (ASIP)...
  83. Helsing P, Nymoen D, Rootwelt H, Vardal M, Akslen L, Molven A, et al. MC1R, ASIP, TYR, and TYRP1 gene variants in a population-based series of multiple primary melanomas. Genes Chromosomes Cancer. 2012;51:654-61 pubmed publisher
    ..Common variants of the genes ASIP, TYR, and TYRP1, which regulate the melanogenic pathway, have also been shown to associate with melanoma...
  84. Hu Y, Fang C, Xu Y. The effect of isoforms of the cell polarity protein, human ASIP, on the cell cycle and Fas/FasL-mediated apoptosis in human hepatoma cells. Cell Mol Life Sci. 2005;62:1974-83 pubmed
    Human ASIP (hASIP) is expressed as numerous alternative splicing isoforms and there is an atypical protein kinease C (aPKC) phosphorylation site in exon 17b of the encoded sequence...
  85. Lin W, Qureshi A, Kraft P, Nan H, Guo Q, Hu F, et al. ASIP genetic variants and the number of non-melanoma skin cancers. Cancer Causes Control. 2011;22:495-501 pubmed publisher
    ..We found nominal significant associations between two ASIP gene-related SNPs, rs1885120 and rs910873, and an ASIP haplotype (AH) (rs4911414 allele T and rs1015362 allele G) ..
  86. Ren H, Wang G, Jiang J, Li J, Fu L, Liu L, et al. Comparative transcriptome and histological analyses provide insights into the prenatal skin pigmentation in goat (Capra hircus). Physiol Genomics. 2017;49:703-711 pubmed publisher
    ..Subsequent analyses suggested that a presumed structure variation (duplication or insertion) in ASIP might be responsible for its lower expression in the hyperpigmented skin (Youzhou dark goat) by determining the ..
  87. Maliarchuk B, Perkova M, Derenko M. [Polymorphism of pigmentation genes (OCA2 and ASIP) in some populations of Russia]. Genetika. 2009;45:401-5 pubmed
    ..system genes, OCA2 (loci 305, 355, and 419, tested in Russians, Buryats, Chukchi, Koryaks, and Evens) and ASIP (locus 8818, tested in Russians and Buryats) was examined...
  88. Sulem P, Gudbjartsson D, Stacey S, Helgason A, Rafnar T, Jakobsdottir M, et al. Two newly identified genetic determinants of pigmentation in Europeans. Nat Genet. 2008;40:835-7 pubmed publisher
    ..Two coding variants in TPCN2 are associated with hair color, and a variant at the ASIP locus shows strong association with skin sensitivity to sun, freckling and red hair, phenotypic characteristics ..
  89. Siddiq A, Couch F, Chen G, Lindstrom S, Eccles D, Millikan R, et al. A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. Hum Mol Genet. 2012;21:5373-84 pubmed publisher
    ..Our results highlight the value of large-scale collaborative studies to identify novel breast cancer risk loci. ..