Assignment of the human gene for pregnancy-associated plasma protein A (PAPPA) to 9q33.1 by fluorescence in situ hybridization to mitotic and meiotic chromosomes

Silahtaroglu, Asli; Tümer, Zeynep; Kristensen, Torsten Nygaard; Sottrup‐Jensen, Lars; Tommerup, Niels

doi:10.1159/000133479

Cited by 30 publications

(21 citation statements)

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“…PAPPA has previously been localized to human chromosome 9q32-33, a region associated with a high frequency of LOH in ovarian tumors (Silahtaroglu et al, 1993;Schultz et al, 1995). In addition, the 9q32 band contains the FRA9E CFS; hence, we were interested in the genomic position of PAPPA relative to this region of instability.…”

Section: Discussionmentioning

confidence: 99%

“…Partial sequence from PAPPA was recovered from this technique because of its presence in OSE, but absence from some of the cancer cell lines. A previous report had mapped PAPPA to 9q33.1, possibly close to FRA9E (9q32) (Silahtaroglu et al, 1993). Consequently, we selected two overlapping BACs, which together contained the entirety of the PAPPA genomic sequence, and performed fluorescence in situ hybridization (FISH) on APC-induced chromosomes.…”

Section: Cloning and Characterization Of Fra9ementioning

confidence: 99%

“…One of the consistently downregulated genes encodes pregnancy-associated plasma protein-A (PAPP-A), one of four proteins originally isolated in 1974 from normal human pregnancy serum and more recently described as the IGFdependent protease that cleaves insulin-like growth factor binding protein-4 (IGFBP-4) (Lin et al, 1974;Lawrence et al, 1999). PAPPA has been localized to human chromosome 9q32-33, a region associated with a high frequency of LOH in ovarian tumors, which also contains the CFS, FRA9E (Glover et al, 1984;Silahtaroglu et al, 1993;Schultz et al, 1995). In addition, recurrent under-representation of the chromosome arm 9q has been documented by comparative genomic hybridization (CGH) analysis (Sonoda et al, 1997).…”

Section: Introductionmentioning

confidence: 99%

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Characterization of the common fragile site FRA9E and its potential role in ovarian cancer

et al. 2003

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Common fragile sites (CFSs) are regions of profound genomic instability that have been hypothesized to play a role in cancer. The major aim of this study was to locate a fragile region associated with ovarian cancer. Differential display (DD)-PCR analysis comparing normal ovarian epithelial cultures and ovarian cancer cell lines identified pregnancy-associated plasma protein-A (PAPPA) because of its frequent loss of expression (LOE) in ovarian cancer cell lines. PAPPA is localized to human chromosome 9q32-33.1, a region associated with significant loss of heterozygosity (LOH) in ovarian tumors (>50%) and in close proximity to the FRA9E CFS. FISH analysis determined that PAPPA was contained within the distal end of FRA9E. Characterization of FRA9E determined that aphidicolin-induced instability extended over 9 Mb, identifying FRA9E as the largest CFS characterized to date. Comprehensive LOH analysis revealed several distinct peaks of LOH within FRA9E. Semiquantitative RT-PCR analysis of 16 genes contained within FRA9E indicated that genes showing LOE in ovarian tumors coincided with regions of high LOH. PAPPA displayed the most significant loss (72%). This study provides evidence to suggest that instability within FRA9E may play an important role in the development of ovarian cancer and lends further support for the hypothesis that CFSs may be causally related to cancer.

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Section: Discussionmentioning

confidence: 99%

Section: Cloning and Characterization Of Fra9ementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Characterization of the common fragile site FRA9E and its potential role in ovarian cancer

et al. 2003

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“…The structural gene for PAPP-A has been localized to the long arm of chromosome 9 (band 9q33.1) (Silahtaroglu et al, 1993) and has been cloned (Kristensen et al, 1994). Ireland et al (1991) have suggested that the gene for CdLS may map to the long arm of chromosome 3 at position 3q26.3, based on the study of an infant with classical CdLS and absent hands and forearms who was found on chromosome analysis to have a de novo translocation t(3;17)(q26.3:q23.1).…”

Section: Discussionmentioning

confidence: 99%

Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies

et al. 1999

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Maternal serum samples were collected from 19 pregnancies which resulted in the birth of a child with the classical Cornelia de Lange syndrome phenotype ascertained by careful clinical review. Using specific immunoassays, the serum levels of pregnancy associated plasma protein‐A, free‐beta human chorionic gonadotrophin and inhibin A were investigated. Pregnancy associated plasma protein‐A was detectable in all cases but the levels were significantly reduced in second‐trimester maternal serum from 18 affected pregnancies. Expressed as multiples of the median (MOM), the results ranged from 0.03 MOM to 0.71 MOM with an overall median value of 0.21 MOM (Mann–Whitney p<0.001). From these data it is possible to estimate a probability that any given level of this serum marker is associated with an affected pregnancy. One further sample taken in the first trimester from an affected pregnancy at 11 weeks' gestation had a normal pregnancy associated plasma protein‐A level (1.22 MOM). Less markedly reduced levels were found for free beta human chorionic gonadotrophin and inhibin A. We conclude that second‐trimester maternal serum pregnancy associated plasma protein‐A measurements may be of value as an adjunct to ultrasonography in the prenatal diagnosis of Cornelia de Lange syndrome. A table of likelihood ratios is presented. Copyright © 1999 John Wiley & Sons, Ltd.

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“…The gene for PAPP-A in humans is located on chromosome 9q33.1 (18) , spans over 200 kb of DNA, and contains 22 exons with a length from 72 to 1063 nucleotides separated by 21 introns of various length (19) . PAPP-A is synthesized as a 1627-residue precursor preproprotein with a 22-residue putative signal peptide and a propeptide of 58 residues, so that the mature protein then contains 1547 amino acids.…”

Section: Biology Of Papp-a: Gene Structure and Functionmentioning

confidence: 99%

Pregnancy-associated plasma protein A: spotlight on kidney diseases

Kalousová

Tesař

Muravská

et al. 2012

Clinical Chemistry and Laboratory Medicine (CCLM)

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Pregnancy-associated plasma protein A (PAPP-A) is a biomarker routinely used in screening for Down syndrome in the fi rst trimester of pregnancy. It is also present in very small amounts in men and non-pregnant women. PAPP-A is a key regulator of local insulin-like growth factor (IGF) bioavailability -IGFs are essential for normal body size during fetal development, but they are associated with aging and agerelated diseases. Measurement of circulating PAPP-A can provide valuable information not only in pregnant women (chromosomal anomalies and adverse pregnancy outcomes) but also in patients with coronary artery disease (contribution to diagnosis, prognostic value) and in patients with kidney diseases. PAPP-A is associated with renal function and proteinuria, is increased mainly in dialysis patients and decreases after kidney transplantation. It is an independent mortality predictor of hemodialysis patients and indicator of adverse outcome of transplanted patients. PAPP-A levels can be infl uenced by various chemicals and drugs, among them mainly heparin. Various assays for PAPP-A exist and the type of assay used in a study should be considered. This article reviews the data summarizing basic information about PAPP-A with a particular focus on the signifi cance of PAPP-A in renal diseases.

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Assignment of the human gene for pregnancy-associated plasma protein A (PAPPA) to 9q33.1 by fluorescence in situ hybridization to mitotic and meiotic chromosomes

Cited by 30 publications

References 10 publications

Characterization of the common fragile site FRA9E and its potential role in ovarian cancer

Characterization of the common fragile site FRA9E and its potential role in ovarian cancer

Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies

Pregnancy-associated plasma protein A: spotlight on kidney diseases

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