Strain-specific copy number variation in the intelectin locus on the 129 mouse chromosome 1.
Strain-specific copy number variation in the intelectin locus on the 129 mouse chromosome 1.
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DOI：
10.1186/1471-2164-12-110
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发表时间：
2011-02-16
期刊：
影响因子：
4.4
通讯作者：
Pemberton AD
中科院分区：
文献类型：
--
作者：
Lu ZH;di Domenico A;Wright SH;Knight PA;Whitelaw CB;Pemberton AD
C57BL/6J mice possess a single intelectin (Itln) gene on chromosome 1. The function of intelectins is not well understood, but roles have been postulated in insulin sensitivity, bacterial recognition, intestinal lactoferrin uptake and response to parasites and allergens. In contrast to C57BL/6J mice, there is evidence for expansion of the Itln locus in other strains and at least one additional mouse Itln gene product has been described. The aim of this study was to sequence and characterise the Itln locus in the 129S7 strain, to determine the nature of the chromosomal expansion and to inform possible future gene deletion strategies. Six 129S7 BAC clones were sequenced and assembled to generate 600 kbp of chromosomal sequence, including the entire Itln locus of approximately 500 kbp. The locus contained six distinct Itln genes, two CD244 genes and several Itln- and CD244-related pseudogenes. It was approximately 433 kbp larger than the corresponding C57BL/6J locus. The expansion of the Itln locus appears to have occurred through multiple duplications of a segment consisting of a full-length Itln gene, a CD244 (pseudo)gene and an Itln pseudogene fragment. Strong evidence for tissue-specific distribution of Itln variants was found, indicating that Itln duplication contributes more than a simple gene dosage effect. We have characterised the Itln locus in 129S7 mice to reveal six Itln genes with distinct sequence and expression characteristics. Since C57BL/6J mice possess only a single Itln gene, this is likely to contribute to functional differences between C57BL/6J and other mouse strains.
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影响因子：
30.8
作者：
Cahan, Patrick;Li, Yedda;Izumi, Masayo;Graubert, Timothy A.
通讯作者：
Graubert, Timothy A.
影响因子：
3
作者：
Bailey TL;Bodén M;Whitington T;Machanick P
通讯作者：
Machanick P
影响因子：
14.9
作者：
Belancio VP;Roy-Engel AM;Pochampally RR;Deininger P
通讯作者：
Deininger P
影响因子：
4.4
作者：
French AT;Knight PA;Smith WD;Pate JA;Miller HR;Pemberton AD
通讯作者：
Pemberton AD
影响因子：
7
作者：
Cutler, Gene;Marshall, Lisa A.;Kassner, Paul D.
通讯作者：
Kassner, Paul D.