Dimorphic Alu element located between the TFIIH and CDSN genes within the major histocompatibility complex
Dimorphic Alu element located between the TFIIH and CDSN genes within the major histocompatibility complex
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DOI：
10.1002/elps.200305524
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发表时间：
2003-08-01
期刊：
影响因子：
2.9
通讯作者：
Kulski, JK
中科院分区：
文献类型：
--
作者：
Dunn, DS;Inoko, H;Kulski, JK
大的SINE家族的大多数Alu成员固定在人类基因组中，但一些年轻的移动的成员是二态的，即它们在基因组中存在或不存在。四种不同的二态性的Alu插入已被确定和以前的主要组织相容性复合体（MHC）的I类区域内的特点。在此，我们报告了（i）一种新的二态性Alu插入物的鉴定和表征，即位于人类白细胞抗原B型（HLA-B B）基因座端粒和HLA-A基因座着丝粒区的MHC区域内的转录因子II H（TFIIH）和角连丝蛋白（CDSN）基因之间的Alu-γ TF，（ii）在代表至少36种不同HLA I类单倍型的48个IHW细胞系的组内，HLA-A和-B基因座与HLA-TF二态性之间的单倍型关系，（iii）HLA-TF基因型，澳大利亚白人和日本人群中存在的等位基因和单倍型频率，以及（iv）108名澳大利亚白人和99名日本人中AluTF二态性与HLA-A和-B等位基因之间的关联频率。在IHW细胞系中，27%的人出现了EkyTF插入，在澳大利亚白种人和日本人中的基因频率分别为0.107和0.083。在两个群体中，由MHC内的Alu基因座（包括Alu yTF）构建的Alu单倍型频率差异不显著（p > 0.05）。Alu插入与HLA-A或-B等位基因之间没有显著关联，除了澳大利亚人中与HLA-A29有中等强度的关联（71.7%）。这种多态性Alu元件，沿着前面描述的MHC I类区域内的其它四种多态性Alu元件，将是人类群体研究中有用的谱系和连锁标记，并用于阐明HLA I类单倍型的进化。
Most Alu members of the large SINE family are fixed within the human genome but some younger mobile members are dimorphic, that is, they are either present or absent in the genome. Four different dimorphic Alu insertions have been identified and characterized previously within the class I region of the major histocompatibility complex (MHC). Here we report on (i) the identification and characterization of a new dimorphic Alu insertion, AluyTF located between the transcription factor II H (TFIIH) and corneodesmosin (CDSN) genes within a region of the MHC that is telomeric of the human leukocyte antigen type B (HLA-B) locus and centromeric of the HLA-A locus, (ii) the haplotypic relationships between the AluyTF dimorphism and the HLA-A and -B loci within a panel of 48 IHW cell-lines representing at least 36 different HLA class I haplotypes, (iii) the AluyTF genotype, allele and haplotype frequencies present in the Australian caucasian and Japanese populations, and (iv) the frequency of association between the AluTF dimorphisms and HLA-A and -B alleles in 108 Australian caucasians and 99 Japanese. The AluyTF insertion was present at 27% in the IHW cell lines, and the gene frequency was 0.107 and 0.083 in the Australian caucasian and Japanese population, respectively. The Alu haplotype frequencies constructed from four different dimorphic Alu loci including AluyTF within the MHC were not significantly different (p > 0.05) between the two populations. There were no significant associations between the Alu insertion and either the HLA-A or -B alleles except for a moderately strong association with HLA-A29 in the Australians (71.7%). This polymorphic AluyTF element, along with the four other previously described polymorphic Alu elements within the class I region of the MHC, will be useful lineage and linkage markers in human population studies and for elucidating the evolution of HLA class I haplotypes.