+P5 (D1S3309E), a novel target binding site for the Wilms’ tumour suppressor 1 (WT1) gene, maps to human chromosome 1q21→q22

Negus, K.; Holmes, Gregory; Wicking, Carol; Wainwright, Brandon; Little, Melissa H.

doi:10.1159/000134210

Cited by 4 publications

(3 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…As shown in Figure 1, the order of the five CD1 genes was thus established as CD1D -CD1A-CD1C-CD1B-CD1E from centromere to telomere, spanning ∼190 kb, in accordance with previous predictions (Yu and Milstein 1989). A PCR primer pair for +P5 (D1S3309E), a target binding (Negus et al 1996), allowed successful amplification from the three previously mentioned YAC clones as well as a fourth one, 367B12. Three additional PAC clones (581I21, 510C21, and 681H10) were obtained by gene-walking using new primer sets corresponding to the telomeric sequence of the PAC clone 747M6 harboring the CD1D and CD1A genes (Fig.…”

Section: Resultssupporting

confidence: 76%

Genomic Anatomy of a Premier Major Histocompatibility Complex Paralogous Region on Chromosome 1q21–q22

Shiina¹,

Andõ²,

Suto³

et al. 2001

Genome Res.

View full text Add to dashboard Cite

Human chromosomes 1q21-q25, 6p21.3-22.2, 9q33-q34, and 19p13.1-p13.4 carry clusters of paralogous loci, to date best defined by the flagship 6p MHC region. They have presumably been created by two rounds of large-scale genomic duplications around the time of vertebrate emergence. Phylogenetically, the 1q21-25 region seems most closely related to the 6p21.3 MHC region, as it is only the MHC paralogous region that includes bona fide MHC class I genes, the CD1 and MR1 loci. Here, to clarify the genomic structure of this model MHC paralogous region as well as to gain insight into the evolutionary dynamics of the entire quadriplication process, a detailed analysis of a critical 1.7 megabase (Mb) region was performed. To this end, a composite, deep, YAC, BAC, and PAC contig encompassing all five CD1 genes and linking the centromeric +P5 locus to the telomeric KRTC7 locus was constructed. Within this contig a 1.1-Mb BAC and PAC core segment joining CD1D to FCER1A was fully sequenced and thoroughly analyzed. This led to the mapping of a total of 41 genes (12 expressed genes, 12 possibly expressed genes, and 17 pseudogenes), among which 31 were novel. The latter include 20 olfactory receptor (OR) genes, 9 of which are potentially expressed. Importantly, CD1, SPTA1, OR, and FCERIA belong to multigene families, which have paralogues in the other three regions. Furthermore, it is noteworthy that 12 of the 13 expressed genes in the 1q21-q22 region around the CD1 loci are immunologically relevant. In addition to CD1A-E, these include SPTA1, MNDA, AIM2, BL1A, FY and FCERIA. This functional convergence of structurally unrelated genes is reminiscent of the 6p MHC region, and perhaps represents the emergence of yet another antigen presentation gene cluster, in this case dedicated to lipid/glycolipid antigens rather than antigen-derived peptides.

show abstract

Section: Resultssupporting

confidence: 76%

Genomic Anatomy of a Premier Major Histocompatibility Complex Paralogous Region on Chromosome 1q21–q22

Shiina¹,

Andõ²,

Suto³

et al. 2001

Genome Res.

View full text Add to dashboard Cite

show abstract

“…Several disease-related genes have been mapped to chromosome band 1q21, including the GLC1A locus for open-angle glaucoma (Brezin et al, 1997), the familial partial lipodystrophy locus (Peters et al, 1998), a target binding site for the Wilms' tumor suppressor 1 (WT1) gene (Negus et al, 1996), genes linked to hyperparathyroidism (Teh et al, 1996), nonsyndromic hearing impairment (Fagerheim et al, 1996), neural tube defects (Stanier et al, 1995), and multiple craniofacial anomalies (Leichtman et al, 1993). Nonrandom abnormalities of 1q21 → q25 are frequent in AIDS-related Burkitt's lymphoma-derived cell lines (Polito et al, 1995), and there is an overrepresentation of 1q21 → q23 in lipoma-like and soft-tissue sarcomas (Forus et al, 1995;Szymanska et al, 1997).…”

Section: Discussionmentioning

confidence: 99%

The integrin α10 subunit: expression pattern, partial gene structure, and chromosomal localization

Lehnert

Ni²,

Leung³

et al. 1999

Cytogenet Genome Res

View full text Add to dashboard Cite

Herein we report the cloning of cDNAs and incompletely processed hnRNAs from endothelia and heart that encode the α10 subunit forming part of the novel collagen type II-binding integrin α10β1 of chondrocytes. Analysis of hnRNA clones and reported expressed sequence tags revealed the positions of 17 putative intron-exon splice junctions shared with those of the p150,95 (ITGAX) gene. Human α10 transcripts of 5.4 and 1.8 kb were not restricted to chondrocytes but, instead, were widely expressed in a panel of 24 tissue types, where the highest expression was found in muscle and heart. The human α10 subunit gene (ITGA10) was localized to band q21 of chromosome 1.

show abstract

“…Chromosome 1q trisomy, frequently as a result of translocations with 1q21 breakpoints, is seen in 20% of WT (Slater and Mannens, 1992). A target binding site for WT1 has now been mapped to 1q21-22 (Negus et al, 1996). WT is also infrequently seen in Li-Fraumeni syndrome, in which patients show constitutional p53 mutations (Hartley et al, 1993).…”

Section: A Role For Other Loci In Wilms Tumourmentioning

confidence: 99%

A clinical overview of WT1 gene mutations

1997

View full text Add to dashboard Cite

+P5 (D1S3309E), a novel target binding site for the Wilms’ tumour suppressor 1 (WT1) gene, maps to human chromosome 1q21→q22

Cited by 4 publications

References 8 publications

Genomic Anatomy of a Premier Major Histocompatibility Complex Paralogous Region on Chromosome 1q21–q22

Genomic Anatomy of a Premier Major Histocompatibility Complex Paralogous Region on Chromosome 1q21–q22

The integrin α10 subunit: expression pattern, partial gene structure, and chromosomal localization

A clinical overview of WT1 gene mutations

Contact Info

Product

Resources

About