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HPMR

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Parathyroid Hormone-like Hormone OKDB#: 61
 Symbols: PTHLH Species: human
 Synonyms: PARATHYROID HORMONE-RELATED PROTEIN, PTHRP| PTHR, FORMERLY| HUMORAL HYPERCALCEMIA OF MALIGNANCY, INCLUDED, HHM, INCLUDED|  Locus: 12p12.1-p11.2 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment From the culture medium of a human lung cancer cell line, Moseley et al. (1987) purified a protein with biologic activities similar to parathyroid hormone. The cancer cells in question contained PTH DNA but no PTH messenger RNA, thus indicating that the PTHR gene is distinct. Suva et al. (1987) and Mangin et al. (1988) identified a cDNA clone that encodes PTHLH. The cDNA encodes a protein of 177 amino acids, containing a precursor sequence of 36 amino acids followed by the mature peptide of 141 amino acids.

NCBI Summary: Parathyroid-related protein, signaling through its receptor, PTHR1 (MIM 168468), regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. PTHRP is responsible for most cases of humoral hypercalcemia of malignancy.[supplied by OMIM]
General function Ligand, Hormone
Comment
Cellular localization Secreted
Comment
Ovarian function Oogenesis, Early embryo development
Comment The Roles of Parathyroid Hormone-Like Hormone during Mouse Preimplantation Embryonic Development. Guo L et al. Parathyroid hormone-like hormone (PTHLH) was first identified as a parathyroid hormone (PTH)-like factor responsible for humoral hypercalcemia in malignancies in the 1980s. Previous studies demonstrated that PTHLH is expressed in multiple tissues and is an important regulator of cellular and organ growth, development, migration, differentiation, and survival. However, there is a lack of data on the expression and function of PTHLH during preimplantation embryonic development. In this study, we investigated the expression characteristics and functions of PTHLH during mouse preimplantation embryonic development. The results show that Pthlh is expressed in mouse oocytes and preimplantation embryos at all developmental stages, with the highest expression at the MII stage of the oocytes and the lowest expression at the blastocyst stage of the preimplantation embryos. The siRNA-mediated depletion of Pthlh at the MII stage oocytes or the 1-cell stage embryos significantly decreased the blastocyst formation rate, while this effect could be corrected by culturing the Pthlh depleted embryos in the medium containing PTHLH protein. Moreover, expression of the pluripotency-related genes Nanog and Pou5f1 was significantly reduced in Pthlh-depleted embryos at the morula stage. Additionally, histone acetylation patterns were altered by Pthlh depletion. These results suggest that PTHLH plays important roles during mouse preimplantation embryonic development. Small cell carcinomas (SCC) are the most common ovarian tumors associated with hypercalcemia. Parathyroid hormone-related protein (PTHrp) is the most frequent cause of hypercalcemia of malignancy. Matias-Guiu et al found that PTHrp plays a role in the development of hypercalcemia in patients with SCC of the ovary Matias-Guiu et al. (1994). Garmey et al. (2000) found that PTH-rp (1 muM) stimulated intracellular free calcium ion concentrations ([Ca(2+)](i)) in single porcine theca cells. The [Ca(2+)](i) elevation was characterized by a slow and prolonged rise. After PTH-rp stimulation, theca cells maintained responsiveness to hormone stimulation by LH, which elicited a typical theca cell [Ca(2+)](i) response.
Expression regulated by Growth Factors/ cytokines
Comment Transforming growth factor (TGF)-beta1 (100 ng/ml) increased PTH-rp concentrations (assayed by two-site immunoradiometric assay of culture media) as well as corresponding PTH-rp mRNA accumulation (assessed by RT-PCR) in a time-dependent manner, with maximal responses of 3- to 5-fold at 96 h. TGF-beta1 dose-response studies revealed an ED(50) of 0.24-0.38 ng/ml with a maximal effect at 30 ng/ml. Other growth factors and hormones, including insulin, insulin-like growth factor (type I), epidermal growth factor, FSH, estradiol, and interleukin-1, failed to alter PTH-rp secretion Garmey et al. (2000).
Ovarian localization Oocyte, Granulosa, Theca, Luteal cells
Comment Asa et al. (1990) found PTHrP immunostaining in ovarian granulosa and thecal cells. Garmey et al. (2000) found that PTH-rp gene is expressed at high levels in porcine corpus luteum but is undetectable in granulosa and theca cells isolated from small and medium-sized antral follicles. Watson PH, et al 2001 reported the expression of PTHrP and PTHR (PTH/PTHrP-r) mRNAs and polypeptides in bovine ovary and stimulation of bovine blastocyst development in vitro following PTHrP treatment during oocyte maturation. mRNAs encoding PTHrP and PTHR were detected by in situ hybridization methods in oocytes, and granulosa cells in all follicles from primordial to large antral. PTHrP and PTHR polypeptides displayed distinct distribution patterns with PTHrP polypeptides primarily confined to oocytes from primordial to large antral follicles. PTHrP polypeptides were detectable but at a reduced level in ovarian stroma and in granulosa and thecal layers. PTHR polypeptides were detected in oocytes of all follicular stages but were predominantly found in ovarian stroma, granulosa and theca follicular layers. Supplementation of serum-free cSOFMaa oocyte maturation medium with PTHrP (1-141) resulted in a concentration-dependent increase in development to the blastocyst stage in vitro. The results suggest that granulosa cells may be a primary site of PTHrP production and release. Oocytes from all follicular stages stained strongly for PTHrP polypeptides and PTHrP enhanced development to the blastocyst stage in vitro.
Follicle stages Secondary, Antral, Preovulatory
Comment Gutmann et al. (1993) reported that human granulosa-luteal cells secrete parathyroid hormone-related protein in vivo and in vitro.
Phenotypes
Mutations 1 mutations

Species: mouse
Mutation name: None
type: null mutation
fertility: embryonic lethal
Comment: Philbrick et al. (1998) reported that parathyroid hormone (PTH)-related protein (PTHrP)-knockout mice die at birth with a chondrodystrophic phenotype characterized by premature chondrocyte differentiation and accelerated bone formation.

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Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: June 12, 1999, midnight by: kmwasson   email:
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last update: July 25, 2012, 9:21 a.m. by: hsueh    email:



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