Mapping of a locus correcting lack of phosphoribosylaminoimidazole carboxylase activity in Chinese hamster ovary cell Ade−D mutants to human chromosome 4

Barton, Jeffrey W.; Hart, Iris; Patterson, David

doi:10.1016/0888-7543(91)90259-h

Cited by 10 publications

(7 citation statements)

References 17 publications

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“…Trypsin G-banding analysis was used for all cytogenetic analysis. For the somatic cell hybrids, after trypsin G-banding, staining by the G-11 method was performed to distinguish human from hamster chromosomal material (Barton et al 1991).…”

Section: Cytogenetic Analysismentioning

confidence: 99%

Molecular characterization of a patient with del(1)(q23–q25)

et al. 1991

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We report a patient (S.T.) with multiple congenital anomalies and developmental delay associated with an interstitial deletion of 1q23-1q25. Molecular analysis of the deletion was performed using DNA markers that map to 1q. Five DNA markers, MLAJ-1 (D1S61), CRI-L1054 (D1S42), HBI40 (D1S66), OS-6 (D1S75), and BH516 (D1S110), were demonstrated to be deleted. Informative polymorphisms demonstrated this to be a de novo deletion of the maternally derived chromosome. Deletion status was determined using restriction fragment length polymorphism (RFLP) analysis supplemented with densitometry in the experiments where RFLP analysis was not fully informative. Deletions were confirmed by Southern analysis using genomic DNA from a somatic cell hybrid retaining the del(1)(q23-q25) chromosome that was constructed from patient S.T. Flow karyotyping confirmed the deletion and estimated that the deletion encompassed 11,000-16,000 kb. The clinical and cytogenetic characteristics of S.T. are compared with those of ten previously described patients with monosomy 1q21-1q25.

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Section: Cytogenetic Analysismentioning

confidence: 99%

Molecular characterization of a patient with del(1)(q23–q25)

et al. 1991

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“…Accordingly, chicken liver poly(A+) RNA blots were probed with various restriction fragments from genomic clones C-AT8 and C-AT9, located 5' of GPAT exon 1. Surprisingly, several of these fragments hybridized with a 2.3-kb mRNA distinct from the 2.8-and 3.1-kb GPAT mRNAs (Fig.…”

Section: Resultsmentioning

confidence: 99%

“…With one exception, genes for the 12 steps to AMP synthesis are on individual human chromosomes. However, GPAT and AIRC, genes encoding enzymes for step 1 and steps 6 plus 7, respectively, were both assigned to the q arm of chromosome 4, and the possibility of physical linkage was considered (1).…”

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confidence: 99%

Coexpression of Two Closely Linked Avian Genes for Purine Nucleotide Synthesis from a Bidirectional Promoter:

1993

Mol. Cell. Biol.

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“…tants deficient in AMP synthesis and by subsequent cytogenetic analysis of Chinese hamster ovary-human somatic cell hybrids. GPAT and AIRC were thus mapped to overlapping regions of chromosome 4, whereas other genes of the pathway were localized on different chromosomes (Barton et al, 1991). More recently, the human GPAT-AIRC locus has been mapped by in situ fluorescence hybridization to the q12 region of chromosome 4 (Brayton et al, 1994).…”

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confidence: 99%

Analysis of the Chicken GPAT/AIRC Bidirectional Promoter for de Novo Purine Nucleotide Synthesis

Gavalas¹,

Zalkin

1995

Journal of Biological Chemistry

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GPAT and AIRC encode two enzymes that catalyze steps 1 and 6 plus 7, respectively, of the de novo purine biosynthetic pathway. The chicken genes are closely linked and divergently transcribed from an approximately 230-base pair intergenic region. The promoter was scanned by deletion mutagenesis in a bireporter vector that allowed assay of transcriptional activity in both directions in transfected HepG2 and chicken LMH cells. Three classes of deletions were obtained: those affecting bidirectional transcription, those predominantly affecting GPAT transcription, and those predominantly affecting AIRC transcription. Defects in bidirectional transcription resulted from removal of an initiator-like element overlapping the AIRC transcription start site, as well as deletions removing a series of GC and CCAAT boxes from the AIRC proximal half of the promoter and a CCAAT-containing segment from the GPAT side. Several regions in the GPAT proximal half of the promoter, including an octamer-like motif downstream from the transcription start site, were required predominantly for GPAT expression. Evidence for interaction of HeLa nuclear proteins with some of these sites was obtained by gel retardation, DNase I, and methylation interference assays. Overall, the results showed that the intergenic region is an integrated bidirectional promoter and that a novel initiator-like element plays a central role in coordinating expression of the divergently transcribed AIRC and GPAT genes.

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Mapping of a locus correcting lack of phosphoribosylaminoimidazole carboxylase activity in Chinese hamster ovary cell Ade−D mutants to human chromosome 4

Cited by 10 publications

References 17 publications

Molecular characterization of a patient with del(1)(q23–q25)

Molecular characterization of a patient with del(1)(q23–q25)

Coexpression of Two Closely Linked Avian Genes for Purine Nucleotide Synthesis from a Bidirectional Promoter:

Analysis of the Chicken GPAT/AIRC Bidirectional Promoter for de Novo Purine Nucleotide Synthesis

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