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Sökning: onr:"swepub:oai:lup.lub.lu.se:fe5f5812-d961-41f9-8b0c-e8ef3974c7c0" > Independent introdu...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00004011naa a2200541 4500
001oai:lup.lub.lu.se:fe5f5812-d961-41f9-8b0c-e8ef3974c7c0
003SwePub
008160401s2008 | |||||||||||000 ||eng|
0247 a https://lup.lub.lu.se/record/11970032 URI
0247 a https://doi.org/10.1016/j.ajhg.2007.09.0122 DOI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Enattah, Nabil Sabri4 aut
2451 0a Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture
264 1b Elsevier BV,c 2008
520 a The T-13910 variant located in the enhancer element of the lactase (LCT) gene correlates perfectly with lactase persistence (LP) in Eurasian populations whereas the variant is almost nonexistent among Sub-Saharan African populations, showing high prevalence of LP. Here, we report identification of two new mutations among Saudis, also known for the high prevalence of LP. We confirmed the absence of the European T-13910 and established two new mutations found as a compound allete: T/G(-13915) within the -13910 enhancer region and a synonymous SNP in the exon 17 of the MCM6 gene T/C-3712, -3712 bp from the LCT gene. The compound allele is driven to a high prevalence among Middle East population(s). Our functional analyses in vitro showed that both SNPs of the compound allele, located 10 kb apart, are required for the enhancer effect, most probably mediated through the binding of the hepatic nuclear factor 1 alpha (HNF1 alpha). High selection coefficient (s) similar to 0.04 for LP phenotype was found for both T-13910 and the compound allele. The European T-13910 and the earlier identified East African G(-13907) LP allele share the same ancestral background and most likely the same history, probably related to the same cattle domestication event. In contrast, the compound Arab allele shows a different, highly divergent ancestral haplotype, suggesting that these two major global LP alleles have arisen independently, the latter perhaps in response to camel milk consumption. These results support the convergent evolution of the LP in diverse populations, most probably reflecting different histories of adaptation to milk culture.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
7001 a Jensen, Tine G. K.4 aut
7001 a Nielsen, Mette4 aut
7001 a Lewinski, Rikke4 aut
7001 a Kuokkanen, Mikko4 aut
7001 a Rasinpera, Heli4 aut
7001 a El-Shanti, Hatem4 aut
7001 a Seo, Jeong Kee4 aut
7001 a Alifrangis, Michael4 aut
7001 a Khalil, Insaf F.4 aut
7001 a Natah, Abdrazak4 aut
7001 a Ali, Ahmed4 aut
7001 a Natah, Sirajedin4 aut
7001 a Comas, David4 aut
7001 a Mehdi, S. Qasim4 aut
7001 a Groop, Leifu Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups4 aut0 (Swepub:lu)endo-lgr
7001 a Vestergaard, Else Marie4 aut
7001 a Imtiaz, Faiqa4 aut
7001 a Rashed, Mohamed S.4 aut
7001 a Meyer, Brian4 aut
7001 a Troelsen, Jesper4 aut
7001 a Peltonen, Leena4 aut
7102 a Genomik, diabetes och endokrinologib Forskargrupper vid Lunds universitet4 org
7730 t American Journal of Human Geneticsd : Elsevier BVg 82:1, s. 57-72q 82:1<57-72x 0002-9297
8564 u http://dx.doi.org/10.1016/j.ajhg.2007.09.012y FULLTEXT
8564 u http://www.cell.com/article/S0002929707000183/pdf
8564 8u https://lup.lub.lu.se/record/1197003
8564 8u https://doi.org/10.1016/j.ajhg.2007.09.012

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