Did you know ? If you order before Friday 14h we deliver 90PCT of the the time next Tuesday, GENTAUR another in time delivery

Pubmed ID :18172690
Publication Date : //

Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.


The human eye color is a quantitative trait displaying multifactorial inheritance. Several studies have shown that the OCA2 locus is the major contributor to the human eye color variation. By linkage analysis of a large Danish family, we finemapped the blue eye color locus to a 166 Kbp region within the HERC2 gene. By association analyses, we identified two SNPs within this region that were perfectly associated with the blue and brown eye colors: rs12913832 and rs1129038. Of these, rs12913832 is located 21.152 bp upstream from the OCA2 promoter in a highly conserved sequence in intron 86 of HERC2. The brown eye color allele of rs12913832 is highly conserved throughout a number of species. As shown by a Luciferase assays in cell cultures, the element significantly reduces the activity of the OCA2 promoter and electrophoretic mobility shift assays demonstrate that the two alleles bind different subsets of nuclear extracts. One single haplotype, represented by six polymorphic SNPs covering half of the 3' end of the HERC2 gene, was found in 155 blue-eyed individuals from Denmark, and in 5 and 2 blue-eyed individuals from Turkey and Jordan, respectively. Hence, our data suggest a common founder mutation in an OCA2 inhibiting regulatory element as the cause of blue eye color in humans. In addition, an LOD score of Z = 4.21 between hair color and D14S72 was obtained in the large family, indicating that RABGGTA is a candidate gene for hair color.

Authors : Eiberg Hans , Troelsen Jesper , Nielsen Mette , Mikkelsen Annemette , Mengel-From Jonas , Kjaer Klaus W , Hansen Lars ,

Related products :

Catalog number Product name Quantity
29-006 AKAP8L could play a role in constitutive transport element (CTE)-mediated gene expression. It does not seem to be implicated in the binding of regulatory subunit II of PKA. It may be involved in nucle 0.1 mg
HERC2_MOUSE ELISA Kit FOR E3 ubiquitin-protein ligase HERC2; organism: Mouse; gene name: Herc2 96T
28-769 PRDM1 is a protein that acts as a repressor of beta-interferon gene expression. The protein binds specifically to the PRDI (positive regulatory domain I element) of the beta-IFN gene promoter. Transcr 0.1 mg
25-942 OCA2 is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine - a precursor of melanin. Mutations in the gene encoding OCA2 result in type 2 oculocuta 0.05 mg
28-899 DLX5 is a member of a homeobox transcription factor family. DLX5 may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with 0.1 mg
27-728 DLX5 is a member of a homeobox transcription factor family. DLX5 may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with 0.05 mg
EIAAB39839 ADD1,Adipocyte determination- and differentiation-dependent factor 1,Rat,Rattus norvegicus,Srebf1,Srebp1,SREBP-1,Sterol regulatory element-binding protein 1,Sterol regulatory element-binding transcrip
EIAAB39841 Mouse,Mus musculus,Srebf2,Srebp2,SREBP-2,Sterol regulatory element-binding protein 2,Sterol regulatory element-binding transcription factor 2
EIAAB39837 Mouse,Mus musculus,Srebf1,Srebp1,SREBP-1,Sterol regulatory element-binding protein 1,Sterol regulatory element-binding transcription factor 1
EIAAB39840 Rat,Rattus norvegicus,Srebf2,SREBP-2,Sterol regulatory element-binding protein 2,Sterol regulatory element-binding transcription factor 2
18-003-42931 Sterol regulatory element-binding protein 2 - SREBP-2; Sterol regulatory element-binding transcription factor 2 Polyclonal 0.05 mg Aff Pur
18-003-43157 Sterol regulatory element-binding protein 1 - SREBP-1; Sterol regulatory element-binding transcription factor 1 Polyclonal 0.05 mg Aff Pur
PRELID2 PREB Gene prolactin regulatory element binding
orb81452 Human Ubiquitin Gly76 to Ala76 mutation protein Recombinant human ubiquitin featuring Gly76 to Ala76 mutation that, by inhibiting the ubiquitin hydrolases, prevents the removal of ubiquitin from prote 5
25-589 Oxysterols regulate cholesterol homeostasis through the liver X receptor (LXR)- and sterol regulatory element-binding protein (SREBP)-mediated signaling pathways. This gene is an insulin-induced gene. 0.05 mg
25-587 Oxysterols regulate cholesterol homeostasis through the liver X receptor (LXR)- and sterol regulatory element-binding protein (SREBP)-mediated signaling pathways. This gene is an insulin-induced gene. 0.05 mg
EIAAB39836 ADD1,Adipocyte determination and differentiation-dependent factor 1,Pig,SREBF1,SREBP1,SREBP-1,Sterol regulatory element-binding protein 1,Sterol regulatory element-binding transcription factor 1,Sus s
TE78101 Color inserts Insert color Blue pk/500 ea
PREB_RAT ELISA Kit FOR Prolactin regulatory element-binding protein; organism: Rat; gene name: Preb 96T
SRBP2_RAT ELISA Kit FOR Sterol regulatory element-binding protein 2; organism: Rat; gene name: Srebf2 96T
SRBP1_RAT ELISA Kit FOR Sterol regulatory element-binding protein 1; organism: Rat; gene name: Srebf1 96T
31-215 TEAD1 is a transcriptional enhancer. It interacts with a muscle-specific cofactor to promote skeletal muscle gene expression. The mutation in the TEAD1 gene is the cause of Sveinsson's chorioretinal a 0.1 mg
29-078 TEAD1 is a transcriptional enhancer. It interacts with a muscle-specific cofactor to promote skeletal muscle gene expression. The mutation in the TEAD1 gene is the cause of Sveinsson's chorioretinal a 0.05 mg
29-841 The Makorin ring finger protein-1 (MKRN1) is a novel class of zinc finger proteins. Phylogenetic analyses indicate that the MKRN1 gene is the ancestral founder of this gene family. 0.1 mg
CSB-EL010293HU Human E3 ubiquitin-protein ligase HERC2(HERC2) ELISA kit SpeciesHuman 96T


 

GENTAUR Belgium BVBA BE0473327336
Voortstraat 49, 1910 Kampenhout BELGIUM
Tel 0032 16 58 90 45

Fax 0032 16 50 90 45
info@gentaur.com | Gentaur





GENTAUR Ltd.
Howard Frank Turnberry House
1404-1410 High Road
Whetstone London N20 9BH
Tel 020 3393 8531 Fax 020 8445 9411
uk@gentaur.com | Gentaur

 

 




GENTAUR France SARL
9, rue Lagrange, 75005 Paris
Tel 01 43 25 01 50

Fax 01 43 25 01 60
RCS Paris B 484 237 888

SIRET 48423788800017

BNP PARIBAS PARIS PL MAUBERT BIC BNPAFRPPPRG

france@gentaur.com | Gentaur

GENTAUR GmbH
Marienbongard 20
52062 Aachen Deutschland
Support Karolina Elandt
Tel: 0035929830070
Fax: (+49) 241 56 00 47 88

Logistic :0241 40 08 90 86
Bankleitzahl 39050000
IBAN lautet DE8839050000107569353
Handelsregister Aachen HR B 16058
Umsatzsteuer-Identifikationsnummer *** DE 815175831
Steuernummer 201/5961/3925
de@gentaur.com | Gentaur

GENTAUR U.S.A
Genprice Inc, Logistics
547, Yurok Circle
San Jose, CA 95123
CA 95123
Tel (408) 780-0908,
Fax (408) 780-0908,
sales@genprice.com

Genprice Inc, Invoices and accounting
6017 Snell Ave, Ste 357
San Jose, CA 95123




GENTAUR Nederland BV
NL850396268B01 KVK nummer 52327027
Kuiper 1
5521 DG Eersel Nederland
Tel:  0208-080893  Fax: 0497-517897
nl@gentaur.com | Gentaur
IBAN: NL04 RABO 0156 9854 62   SWIFT RABONL2U






GENTAUR Spain
tel:0911876558
spain@gentaur.com | Gentaur






ГЕНТАУЪР БЪЛГАРИЯ
ID # 201 358 931 /BULSTAT
София 1000, ул. "Граф Игнатиев" 53 вх. В, ет. 2
Tel 0035924682280 Fax 0035924808322
e-mail: Sofia@gentaur.com | Gentaur
IBAN: BG11FINV91501014771636
BIC: FINVBGSF

GENTAUR Poland Sp. z o.o.


ul. Grunwaldzka 88/A m.2
81-771 Sopot, Poland
TEL Gdansk 058 710 33 44 FAX  058 710 33 48              

poland@gentaur.com | Gentaur

Other countries

Österreich +43720880899

Canada Montreal +15149077481

Ceská republika Praha +420246019719

Danmark +4569918806

Finland Helsset +358942419041

Magyarország Budapest +3619980547

Ireland Dublin+35316526556

Luxembourg+35220880274

Norge Oslo+4721031366

Sverige Stockholm+46852503438

Schweiz Züri+41435006251

US New York+17185132983

GENTAUR Italy
SRL IVA IT03841300167
Piazza Giacomo Matteotti, 6
24122 Bergamo Tel 02 36 00 65 93
Fax 02 36 00 65 94
italia@gentaur.com | Gentaur