title: Identification of single nucleotide polymorphisms in the agouti signaling protein (ASIP) gene in some goat breeds in tropical and temperate climates.
abstract: The agouti-signaling protein (ASIP) plays a major role in mammalian pigmentation as an antagonist to melanocortin-1 receptor gene to stimulate pheomelanin synthesis, a major pigment conferring mammalian coat color. We sequenced a 352 bp fragment of ASIP gene spanning part of exon 2 and part of intron 2 in 215 animals representing six goat breeds from Nigeria and the United States: West African Dwarf, predominantly black; Red Sokoto, mostly red; and Sahel, mostly white from Nigeria; black and white Alpine, brown and white Spanish and white Saanen from the US. Twenty haplotypes from nine mutations representing three intronic, one silent and five missense (p.S19R, p.N35K, p.L36V, p.M42L and p.L45W) mutations were identified in Nigerian goats. Approximately 89 % of Nigerian goats carry haplotype 1 (TGCCATCCG) which seems to be the wild type configuration of mutations in this region of the gene. Although we found no association between these polymorphisms in the ASIP gene and coat color in Nigerian goats, in-silico functional analysis predicts putative deleterious functional impact of the p.L45W mutation on the basic amino-terminal domain of ASIP. In the American goats, two intronic mutations, g.293G>A and g.327C>A, were identified in the Alpine breed, although the g.293G>A mutation is common to American and Nigerian goat populations. All Sannen and Sahel goats in this study belong to haplotypes 1 of both populations which seem to be the wild-type composite ASIP haplotype. Overall, there was no clear association of this portion of the ASIP gene interrogated in this study with coat color variation. Therefore, additional genomic analyses of promoter sequence, the entire coding and non-coding regions of the ASIP gene will be required to obtain a definite conclusion.
authors: Department of Cell Biology and Genetics, University of Lagos, Lagos, Nigeria.
authors: Mufliat A
authors: MA
authors: Adefenwa
authors: Sunday O
authors: SO
authors: Peters
authors: Brilliant O
authors: BO
authors: Agaviezor
authors: Matthew
authors: M
authors: Wheto
authors: Khalid O
authors: KO
authors: Adekoya
authors: Moses
authors: M
authors: Okpeku
authors: Bola
authors: B
authors: Oboh
authors: Gabriel O
authors: GO
authors: Williams
authors: Olufunmilayo A
authors: OA
authors: Adebambo
authors: Mahipal
authors: M
authors: Singh
authors: Bolaji
authors: B
authors: Thomas
authors: Marcos
authors: M
authors: De Donato
authors: Ikhide G
authors: IG
authors: Imumorin
mesh_terms: D054366:Agouti Signaling Protein / Q000737:chemistry / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D001947:Breeding; D002980:Climate; D016000:Cluster Analysis; D005091:Exons; D005787:Gene Frequency; D006041:Goats / Q000145:classification / Q000235:genetics*; D006239:Haplotypes; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D009549:Nigeria; D020641:Polymorphism, Single Nucleotide; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid
chemical_list: D054366:Agouti Signaling Protein
references: Mol Genet Metab. 2009 Apr;96(4):245-52
references: 19208450
references: Genome Res. 1998 Aug;8(8):826-33
references: 9724328
references: Genome Res. 2008 Aug;18(8):1282-93
references: 18493018
references: Genetics. 1988 Nov;120(3):819-29
references: 3066685
references: Chem Biol. 2006 Dec;13(12):1297-305
references: 17185225
references: FASEB J. 2007 Apr;21(4):976-94
references: 17242160
references: Bioinformatics. 2003 Dec 12;19(18):2496-7
references: 14668244
references: Cytogenet Genome Res. 2009;126(4):333-47
references: 20016133
references: J Mol Biol. 2005 Mar 4;346(4):1059-70
references: 15701517
references: BMC Genet. 2009 Aug 25;10:47
references: 19706191
references: PLoS Genet. 2005 Dec;1(6):e83
references: 16429166
references: J Clin Invest. 1990 Oct;86(4):1084-7
references: 2212001
references: Pigment Cell Res. 2006 Aug;19(4):346-55
references: 16827753
references: Trop Anim Health Prod. 2011 Mar;43(3):561-6
references: 21080228
references: Mamm Genome. 2001 Jun;12(6):450-5
references: 11353392
references: Mol Biol Evol. 1999 Jan;16(1):37-48
references: 10331250
references: Mamm Genome. 2001 Jun;12(6):469-71
references: 11353396
references: J Biol Chem. 2003 Apr 4;278(14):11768-72
references: 12551913
references: FEBS Lett. 1997 Jun 30;410(2-3):223-8
references: 9237634
references: Hum Mutat. 2010 Sep;31(9):E1658-69
references: 20635405
references: Mol Ecol Resour. 2008 Jan;8(1):103-6
references: 21585727
references: J Cell Sci. 2002 Jun 1;115(Pt 11):2349-55
references: 12006619
references: Genetics. 1983 Mar;103(3):545-55
references: 6404695
references: Am J Hum Genet. 2002 Mar;70(3):770-5
references: 11833005
references: J Hered. 1994 Jul-Aug;85(4):267-72
references: 7930499
references: Anim Genet. 2008 Jun;39(3):290-3
references: 18384465
references: Mol Biol Rep. 2008 Sep;35(3):379-85
references: 17520341
references: J Clin Invest. 1993 Jun;91(6):2565-71
references: 8514868
references: Mol Biol Evol. 2011 Oct;28(10):2731-9
references: 21546353
references: Cell. 1993 Mar 26;72(6):827-34
references: 8458079
references: Cell. 1992 Dec 24;71(7):1195-204
references: 1473152
references: Biochemistry. 1997 Feb 25;36(8):2084-90
references: 9047307
references: Genetics. 1988 Nov;120(3):831-40
references: 3147214
references: Genetics. 1989 Nov;123(3):585-95
references: 2513255
references: Genome Res. 2003 Sep;13(9):2129-41
references: 12952881
references: Genetics. 2002 Feb;160(2):659-74
references: 11861569
references: Genetics. 2002 Jan;160(1):305-11
references: 11805065