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LIBRIS Formathandbok  (Information om MARC21)
00004140naa a2200553 4500
008160401s2008 | |||||||||||000 ||eng|
024a https://lup.lub.lu.se/record/11970032 URI
024a https://doi.org/10.1016/j.ajhg.2007.09.0122 DOI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
100a 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 Cell Press,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
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaper0 (SwePub)3012 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicine0 (SwePub)3012 hsv//eng
700a Jensen, Tine G. K.4 aut
700a Nielsen, Mette4 aut
700a Lewinski, Rikke4 aut
700a Kuokkanen, Mikko4 aut
700a Rasinpera, Heli4 aut
700a El-Shanti, Hatem4 aut
700a Seo, Jeong Kee4 aut
700a Alifrangis, Michael4 aut
700a Khalil, Insaf F.4 aut
700a Natah, Abdrazak4 aut
700a Ali, Ahmed4 aut
700a Natah, Sirajedin4 aut
700a Comas, David4 aut
700a Mehdi, S. Qasim4 aut
700a 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
700a Vestergaard, Else Marie4 aut
700a Imtiaz, Faiqa4 aut
700a Rashed, Mohamed S.4 aut
700a Meyer, Brian4 aut
700a Troelsen, Jesper4 aut
700a Peltonen, Leena4 aut
710a Genomik, diabetes och endokrinologib Forskargrupper vid Lunds universitet4 org
773t American Journal of Human Geneticsd : Cell Pressg 82:1, s. 57-72q 82:1<57-72x 0002-9297
856u http://dx.doi.org/10.1016/j.ajhg.2007.09.012y FULLTEXT
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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