Polymorphic MHC class II promoters exhibit distinct expression pattern in various antigen presenting cell lines

Janitz, Michael; Mitchison, Avrion; Reiners-Schramm, Luzie; Lauster, Roland

doi:10.1016/s0165-2478(97)85021-3

Cited by 2 publications

(6 citation statements)

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“…Figure 3 shows the distribution of polymorphic nucleotides along the H2 promoters. These expand but do not change the previous conclusions (Janitz et al ., 1997; Mitchison & Roes, 2002). In this enlarged collection the polymorphisms with high minor allele frequencies are again linked to the reference single nucleotide polymorphism (SNP).…”

Section: Resultssupporting

confidence: 69%

“…The distribution parallels the findings made with reporter constructs discussed below. Table 4 shows the considerable variation in the CRE sequence between the four genes, evidently tolerated in this important region (Sloan et al ., 1992; Janitz et al ., 1997).…”

Section: Resultsmentioning

confidence: 99%

“…The clearest evidence of hitchhiking is the high level of diversity evident far upstream of the human leucocyte antigen (HLA) genes, well beyond the region likely to affect transcription (Horton et al ., 1998; Gaudieri et al ., 2000). However, there are indications that promoters may also undergo adaptive evolution, notably in the disease associations of promoter variants (Haas et al ., 1995; Guardiola et al ., 1996; Bennetts et al ., 1999; Heldt et al ., 2003) and in the impact on transcription of promoter variants occurring naturally (Louis et al ., 1994; Janitz et al ., 1997; Baumgart et al ., 1998) or introduced experimentally (Sloan et al ., 1992). The question then is how much of the variation found in promoters is adaptive, and how much simply a consequence of hitchhiking.…”

Section: Introductionmentioning

confidence: 99%

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A survey of H2 gene sequences, including new wild‐derived genes

Mitchison

Mayer

2007

Int J Immunogenetics

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A comprehensive collection of mouse major histocompatibility complex (MHC) promoter and exon 2 sequences is here presented and analysed. It covers the three best known class II genes and one class I gene, and includes new wild mouse sequences from the 'w' back-cross strains and from the Jackson collection. All sequences are in GenBank, and the new exon sequences largely confirm previous typing by serology and immune function. As in human leucocyte antigen (HLA), the overall nucleotide diversity is higher in the class II genes, in keeping with their more diverse function. Diversity along the promoters is highest in the region of known transcription factor binding, most notably in and around the CRE and rCAAT sequences. This distribution parallels that of maximum single nucleotide polymorphism impact previously obtained with reporter constructs. Taking into account the low nucleotide diversity of the CIITA promoter, we conclude that MHC promoters are likely to have diversified through co-evolution with their exons, while themselves also directly subject to natural selection. The H2Eb(p) alleles form a distinct group, associated with their lack of the recombination hot spot located between exon 2 and exon 3. The collection is expected to prove useful in guiding functional and evolutionary studies.

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Section: Resultssupporting

confidence: 69%

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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A survey of H2 gene sequences, including new wild‐derived genes

Mitchison

Mayer

2007

Int J Immunogenetics

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“…Nucleotide sequences were screened for the presence of transcriptional regulatory target sequences by using the nsite program (Shahmuridov et al ., 1986; Solovyev y Kolchanov, 1994; Heinemeyer et al ., 1999; Solovyev, 2002), which uses the Transfac Database (http://transfac.gbf.de). Sequence data from some other class II genes were retrieved from the literature: HLA‐DQB (Andersen et al ., 1991), HLA‐DRB1 , ‐ DRB2 , ‐ DRB3 , ‐ DRB4 , ‐ DRB5 and ‐DRB7 (Louis et al ., 1993), BoLA‐DRB 3 (Ripoli et al ., 2002, 2004) and H2‐Eb (Janitz et al ., 1997; Mitchinson & Roes, 2002).…”

Section: Methodsmentioning

confidence: 99%

“…Despite the highly conserved sequences of the cis ‐acting elements, polymorphism has been found in the URRs of HLA ‐D genes, namely in DRA (Pinet et al ., 1991), DQB1 (Andersen et al ., 1991; Reichstetter et al ., 1994), DQA1 (Del Pozzo et al ., 1992), DRB1 (Perfetto et al ., 1993; Singal et al ., 1993; Louis et al ., 1993; Singal & Qiu, 1994; Louis et al ., 1994) and DOB (Hake et al ., 2003). It has also been shown that the nucleotide polymorphism of the proximal promoter region of DRB genes has certain functional consequences on their transcriptional activities (Louis et al ., 1993; Louis et al ., 1994; Singal et al ., 1993; Singal & Qiu, 1994; Janitz et al ., 1997; Sindwani & Singal, 2001).…”

Section: Introductionmentioning

confidence: 99%

Polymorphisms of the upstream regulatory region of the major histocompatibility complex DRB genes in domestic horses

Díaz

Giovambattista

Peral‐García

2005

Int J Immunogenetics

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Sequence information was obtained on the variation of the ELA-DRB upstream regulatory region (URR) after polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) cloning and sequencing of approximately 220 bp upstream of the first exon of horse DRB genes. The sequence of the proximal URR of equine DRB is composed of highly conserved sequence motifs, showing the presence of the W, X, Y, CAAT and TATA conserved boxes of major histocompatibility complex (MHC) class II promoters. Five different polymorphic horse DRB promoter sequences were detected in five horse breeds. The results demonstrate the existence of polymorphism in the nucleotide sequences of the ELA-DRB URR, located in the functionally important conserved consensus sequences, the X2 box, the Y box and the TATA box, while conservation were observed in X1 and CAAT boxes. The nucleotide diversity among horse URRs was intermediate between that seen within human and mouse DRB promoters, suggesting the existence of another important source of variability in ELA-DRB genes. In addition, phylogenetic comparisons, identity analysis and sequence organization suggested that the reported sequences would correspond to an expressed ELA-DRB locus. However, further information about the functional significance of these promoter polymorphisms will probably be acquired through expression studies on the different sequences.

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Polymorphic MHC class II promoters exhibit distinct expression pattern in various antigen presenting cell lines

Cited by 2 publications

References 0 publications

A survey of H2 gene sequences, including new wild‐derived genes

A survey of H2 gene sequences, including new wild‐derived genes

Polymorphisms of the upstream regulatory region of the major histocompatibility complex DRB genes in domestic horses

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