Chromosomal Localization of the Human Osteocalcin Gene

Puchacz, Elzbieta; Lian, Jane B.; Stein, Gary S.; Wozney, John M.; Huebner, Kay; Croce, C.M.

doi:10.1210/endo-124-5-2648

Cited by 71 publications

(30 citation statements)

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“…Genomic analysis of the osteocalcin gene by restriction enzymes revealed single fragments of similar size in all cell lines studied, confirming that the human osteocalcin gene is a singlecopy gene [Puchacz et al, 1989] and that the local surroundings of the osteocalcin gene are identical in this respect in the cell lines studied. Interestingly, Rahman et al [1993] have identified multiple copies of the osteocalcin gene in rat and mouse strains.…”

Section: Discussionsupporting

confidence: 62%

“…Further, DNA from MG-63 cells was digested with nine randomly chosen restriction enzymes (Fig. 2B) to confirm that there exists only one copy of the osteocalcin gene in the human genome [Puchacz et al, 1989].…”

Section: Genomic Analysis Of the Osteocalcin Genementioning

confidence: 99%

“…A gene for osteocalcin has been localized to human chromosome 1q [Puchacz et al, 1989]. Osteocalcin is a marker of the most differentiated osteoblasts [Owen et al, 1990;Pockwinse et al, 1992].…”

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confidence: 99%

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State of methylation of the human osteocalcin gene in bone-derived and other types of cells

et al. 1997

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DNA methylation is a general mechanism of controlling tissue-specific gene expression. Osteocalcin is a bone matrix protein whose expression is limited almost entirely to osteoblasts. We were interested in determining whether the state of methylation of the osteocalcin gene plays a role in its expression by studying human bone-derived (MG-63, U2-Os, SaOs-2) and other types (normal lymphocytes, A-498, Hep G2) of cells. Reverse transcription-polymerase chain reaction (RT-PCR) analysis revealed that osteocalcin mRNA production is stimulated by 1,25(OH)2D3 in MG-63 and induced in SaOs-2 but not in U2-Os osteoblast-like osteosarcoma cells. Genomic analysis of the human osteocalcin gene showed that the local surroundings of this single-copy gene are identical in all cell lines studied. Using an isoschizomeric pair of restriction enzymes and Southern analysis, we found that the osteocalcin gene is identically methylated in all three osteosarcoma cell lines. The same sites are also methylated in human normal lymphocytes and A-498 kidney cells, whereas the degree of methylation is higher in Hep G2 human hepatocellular carcinoma cells. Furthermore, the osteocalcin gene was identically protected against enzymatic digestion at the chromatin level in normal lymphocytes and in all cell lines studied. Induction of hypomethylation of DNA by 5-azacytidine treatment did not cause an induction of osteocalcin synthesis in these cell lines. On the contrary, it attenuated the induction by 1,25(OH)2D3 in MG-63 cells. In gel mobility shift assays, human vitamin D receptor and the AP-1 transcription factor bound to an unmethylated response element oligonucleotide of the osteocalcin gene with greater affinity than to an in vitro methylated response element. These results indicate that the in vivo methylation state of the osteocalcin gene at sites determined in this study does not correlate with the inducibility of this gene. Nevertheless, the in vitro results clearly indicated that hypomethylation of critical regions of the osteocalcin gene promoter is a potential mechanism influencing effective binding of specific nuclear factors and, consequently, gene expression.

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Section: Discussionsupporting

confidence: 62%

Section: Genomic Analysis Of the Osteocalcin Genementioning

confidence: 99%

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State of methylation of the human osteocalcin gene in bone-derived and other types of cells

et al. 1997

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“…Studies in premenopausal white women and Mexican American adults also confirmed the linkage with BMD [9,10]. The human osteocalcin gene, which is located on chromosome 1 at 1q25-31 lies near 1q21-23 [11]. Studies in mice have confirmed that osteocalcin-deficient mice developed a phenotype marked by higher bone mass [12].…”

Section: Introductionmentioning

confidence: 93%

Associations of Serum Osteocalcin and Polymorphisms of the Osteocalcin Gene with Bone Mineral Density in Postmenopausal and Elderly Chinese Women

Zhang

He²,

Fu³

et al. 2016

Lifestyle Genomics

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Background: The aims of this study were: (1) to evaluate the association of serum osteocalcin with bone mineral density (BMD) and markers of bone metabolism in postmenopausal and elderly Chinese women, and (2) to observe the relationships of single-nucleotide polymorphisms (SNPs) in and around the osteocalcin gene with osteocalcin and BMD. Methods: A cross-sectional study was conducted with 725 postmenopausal Chinese women. Five SNPs (rs1543294, rs1800247, rs759330, rs2842880, and rs933489) of the osteocalcin gene were genotyped. Serum osteocalcin and intact parathyroid hormone (PTH), 25-hydroxyvitamin D [25(OH)D], and type I collagen containing cross-linked C-telopeptide (β-CTX) were measured. The BMD of the lumbar spine and proximal femur was measured by dual-energy X-ray absorptiometry. Results: Osteocalcin was positively correlated with serum phosphorus (p = 0.001), alkaline phosphatase (ALP; p < 0.001), PTH (p = 0.002) and β-CTX (p < 0.001), and negatively correlated with BMD at the lumbar spine (p < 0.001) and total hip (p = 0.002). No significant association was obtained between the SNPs, haplotypes of the osteocalcin gene, and BMD or osteocalcin. Conclusion: Our results suggest that osteocalcin was positively correlated with serum phosphorus, ALP, PTH, and β-CTX, but negatively correlated with BMD at the lumbar spine and total hip. Common genetic variants of the osteocalcin gene may not be a major contributor to variations in serum osteocalcin or BMD in postmenopausal and elderly Chinese women.

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“…The human osteocalcin gene has been mapped to chromosomal region 1q25-1q31 by somatic cell hybridization (Puchacz et al, 1989). The gene spans approximately 2 kb and includes a TATA box, four exons, and a promoter with binding sites for numerous transcriptional regulators (Celeste et al, 1986;Morrison et al, 1989;Bidwell et al, 1993;Morrison and Eisman, 1993).…”

Section: Introductionmentioning

confidence: 99%

Osteocalcin: Genetic and Physical Mapping of the Human Gene BGLAP and Its Potential Role in Postmenopausal Osteoporosis

et al. 1999

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Chromosomal Localization of the Human Osteocalcin Gene

Cited by 71 publications

References 0 publications

State of methylation of the human osteocalcin gene in bone-derived and other types of cells

State of methylation of the human osteocalcin gene in bone-derived and other types of cells

Associations of Serum Osteocalcin and Polymorphisms of<b> </b>the<b><i> Osteocalcin</i></b> Gene with Bone Mineral Density in Postmenopausal and Elderly Chinese Women

Osteocalcin: Genetic and Physical Mapping of the Human Gene BGLAP and Its Potential Role in Postmenopausal Osteoporosis

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