* 150200

CHORIONIC SOMATOMAMMOTROPIN HORMONE 1; CSH1


Alternative titles; symbols

CHORIONIC SOMATOMAMMOTROPIN A; CSA; CSMT
LACTOGEN, PLACENTAL; PL


HGNC Approved Gene Symbol: CSH1

Cytogenetic location: 17q23.3     Genomic coordinates (GRCh38): 17:63,894,918-63,896,574 (from NCBI)


Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
17q23.3 [Placental lactogen deficiency] 1

TEXT

Cloning and Expression

Chorionic somatomammotropin hormone is structurally, immunologically, and functionally similar to pituitary growth hormone (GH; 139250). It is synthesized by the placental syncytiotrophoblast and therefore its genetic determination is a function of the fetal genome. Human lactogen has 190 amino acid residues and a molecular weight of 22,125 Da. The first cloning of a human gene sequence, that of chorionic somatomammotropin, was reported by Shine et al. (1977). From studies of cDNA transcribed from human placental lactogen mRNA, McWilliams et al. (1977) concluded that there are 2 copies of the gene per haploid genome.

Owerbach et al. (1980) reported that GH and CSH have 191 amino acid residues and show about 85% homology in amino acid sequence. Their messenger RNAs have more than 90% homology.

Chen et al. (1989) reported that each gene in the GH/CS gene cluster encodes a precursor protein of approximately 200 amino acids. The N-terminal 26 residues of each precursor protein function as a signal sequence.

MacLeod et al. (1992) stated that the CSA AND CSB (CSH2; 118820) genes encode identical mature proteins. Using Northern blot and RT-PCR analyses, they found that CS expression increases sharply between 12 and 20 weeks of gestation, then plateaus and remains stable through term. CSA and CSB mRNA levels are approximately equal at 8 weeks' gestation, but CSA is expressed 5-fold more abundantly than CSB by term. A small percentage of CS transcripts stably retain intron 4 through gestation, the majority of which are derived from CSA.


Evolution

Owerbach et al. (1980) estimated that the GH and CSH genes diverged about 50 to 60 million years ago, whereas the prolactin (PRL; 176760) and GH genes diverged about 400 million years ago.

Baxter (1981) found that human PL and human GH are more alike than are rat GH and human GH. (Placental lactogen has more growth-promoting effects than milk-producing effects.) He proposed that in evolution the prolactin gene diverged early from the gene that was the common progenitor of the GH and PL genes.


Gene Structure

Chen et al. (1989) reported that each gene in the CS/GH gene cluster spans 66,495 bp and contains 5 exons.


Mapping

By a combination of restriction mapping and somatic cell hybridization, Owerbach et al. (1980) assigned genes for growth hormone, chorionic somatomammotropin, and a third growth hormone-like gene (GHL; 139240) to chromosome 17. There appeared to be 3 CS genes and 2 GH genes. The cloned genes have similar intervening sequences.

By in situ hybridization, Harper et al. (1982) assigned the placental lactogen-growth hormone gene cluster to 17q22-q24. A clone of cDNA to PL mRNA was tritium-labeled by nick translation and hybridized in situ to human chromosome preparations in the presence of 10% dextran sulfate. A gene copy number experiment showed that both genes are present in about 3 copies per haploid genome. The sequence of genes in the growth hormone-placental lactogen gene family is thought to be: GH-CSL-CSA-GHV-CSB (Phillips, 1983).


Gene Function

Human GH modulates and regulates intraovarian reproductive processes in a dose-dependent manner via the endocrine growth hormone-releasing hormone (GHRH; 139190)/GH/insulinlike growth factor I (IGF1; 147440) axis. Schwarzler et al. (1997) investigated the possibility of gene-selective intraovarian GH/placental lactogen (PL) hormone production, with emphasis on differences between pre- and post-menopause. Analysis of both premenopausal and postmenopausal ovarian-derived mRNA by RT-PCR, which amplifies all major gene products of the GH/PL gene cluster, detected transcripts in all specimens. No difference was observed between pre- and postmenopausal ovarian GHN, but PL mRNA values were 2 to 3 orders of magnitude lower in postmenopausal tissue (p less than 0.001). Serum levels of healthy premenopausal and postmenopausal women were less than 0.02 ng PL/mL. Schwarzler et al. (1997) concluded that ovarian-derived GHN and PLA/B synthesis correlates well with the established local cascade of GHRH, GHRH receptor (139191), GH receptor (600946), IGF1, and IGF1 receptor (147370) as a putative para/autocrine regulator of ovarian reproductive function.

Jiang et al. (1999) noted that human chorionic somatomammotropin gene expression in the placenta is controlled by an enhancer (designated CSEn) containing SV40-related GT-IIC and SphI/SphII enhansons (see 189967). TEF5 (see 603170), whose mRNA is abundant in placenta, was shown to bind cooperatively to a unique, tandemly repeated element in CSEn2, suggesting that TEF5 regulates CSEn activity. The open reading frame of one 3,033-bp clone was identical to TEF5 and contained 300- and 1423-bp 5-prime and 3-prime-untranslated regions, respectively. The in vitro-generated, approximately 53-kD TEF5 polypeptide binds specifically to GT-IIC and SphI/SphII oligonucleotides. Overexpression of TEF5 in BeWo cells using the intact 3,033-bp cDNA transactivates the chorionic somatomammotropin and SV40 enhancers and artificial enhancers composed of tandemly repeated GT-IIC enhansons, but not control octomeric enhansons. The authors concluded that TEF5 is a transactivator that is likely involved in the transactivation of CSEn function.

Prenatal Screening

Ferguson-Smith (2003) traced the development of noninvasive approaches to prenatal screening and diagnosis and commented on the use of circulating fetal nucleic acid in maternal plasma. Ng et al. (2003) provided direct evidence that the placenta is an important source of fetal nucleic acid release into maternal plasma by demonstrating that mRNA transcripts from 2 placenta-expressed genes, those coding for placental lactogen and the beta subunit of chorionic gonadotropin (CGB; 118860), are readily detectable in maternal plasma. The surprising stability of such placental mRNA species in maternal plasma and their rapid clearance after delivery demonstrated that circulating mRNA molecules are practical markers for clinical use.


Molecular Genetics

Monitoring of maternal serum CS for assessment of fetal health has disclosed several examples of CS deficiency in otherwise normal pregnancies. Wurzel et al. (1982) examined the GH and CS family of genes in genomic DNA from an infant with complete antenatal deficiency of CS. Although the growth hormone genes were present, the CS genes were apparently deleted, the infant being homozygous for a deletion with a minimum length of 18.5 kb. The infant showed no abnormality of intrauterine or extrauterine growth and development. Because of evolutionary conservation, the CS gene is presumably not superfluous. Grumbach et al. (1973) suggested that the actions of the hormone in producing insensitivity to insulin and in promoting lipolysis and ketogenesis favor supply of nutrients to the fetus during periods of maternal fasting.

Simon et al. (1986) studied 2 patients with complete absence of human somatomammotropin despite an otherwise uneventful pregnancy. After delivery, DNA was prepared from the neonate blood or from the placenta and the integrity of the CS-GH gene cluster was studied by Southern blotting and hybridization with a CS cDNA probe. One patient was found to be homozygous for a deletion involving CSA, GHV, and CSB. Patient 2 was a compound heterozygote; one chromosome bore the same deletion as that in patient 1, while the other had only the CSA gene missing. Simon et al. (1986) estimated that 2% of persons are heterozygous carriers. Inasmuch as the heterozygous state is probably characterized by reduced CS production, it may be expected that 1 out of 50 pregnancies would have subnormal CS levels of genetic origin. Parks et al. (1985) demonstrated a gene dosage effect depending on the number of loci deleted, a situation somewhat comparable to that in the alpha-thalassemias.


History

Seeburg et al. (1977) determined the nucleotide sequence of a portion of the CS gene. Placenta, which contains CSH mRNA, was taken at cesarean section. The poly(A)+ RNA was obtained and cDNA was prepared using reverse transcriptase. The cDNA was then cleaved at specific sites using restriction endonucleases. The fragments were separated and isolated on polyacrylamide gels and their sequences determined.


REFERENCES

  1. Baxter, J. D. Personal Communication. San Francisco, Calif. 1/13/1981.

  2. Chen, E. Y., Liao, Y.-C., Smith, D. H., Barrera-Saldana, H. A., Gelinas, R. E., Seeburg, P. H. The human growth hormone locus: nucleotide sequence, biology, and evolution. Genomics 4: 479-497, 1989. [PubMed: 2744760, related citations] [Full Text]

  3. Dayhoff, M. O. Hormones, active peptides and toxins. Atlas of Protein Sequence and Structure. Vol. 5. Washington: National Biomedical Research Foundation (pub.) 1972. P. D201.

  4. Ferguson-Smith, M. A. Placental mRNA in maternal plasma: prospects for fetal screening. (Commentary) Proc. Nat. Acad. Sci. 100: 4360-4362, 2003. [PubMed: 12682290, related citations] [Full Text]

  5. Fiddes, J. C., Seeburg, P. H., DeNoto, F. M., Hallewell, R. A., Baxter, J. D., Goodman, H. M. Structure of genes for human growth hormone and chorionic somatomammotropin. Proc. Nat. Acad. Sci. 76: 4294-4298, 1979. [PubMed: 291965, related citations] [Full Text]

  6. George, D. L., Phillips, J. A., III, Francke, U., Seeburg, P. H. The genes for growth hormone and chorionic somatomammotropin are on the long arm of human chromosome 17 in region q21-to-qter. Hum. Genet. 57: 138-141, 1981. [PubMed: 6262212, related citations] [Full Text]

  7. Grumbach, M. M., Kaplan, S. L., Vinik, A. hCS physiology: hormonal effects. In: Berson, S. A.; Yalow, R. S. (eds.): Peptide Hormones. Vol. 2B. New York: Elsevier/North Holland (pub.) 1973. Pp. 797-819.

  8. Harper, M. E., Barrera-Saldana, H. A., Saunders, G. F. Chromosomal localization of the human placental lactogen-growth hormone gene cluster to 17q22-24. Am. J. Hum. Genet. 34: 227-234, 1982. [PubMed: 7072716, related citations]

  9. Jiang, S.-W., Wu, K., Eberhardt, N. L. Human placental TEF-5 transactivates the human chorionic somatomammotropin gene enhancer. Molec. Endocr. 13: 879-889, 1999. [PubMed: 10379887, related citations] [Full Text]

  10. Kidd, V. J., Saunders, G. F. Linkage arrangement of human placental lactogen and growth hormone genes. J. Biol. Chem. 257: 10673-10680, 1982. [PubMed: 6286668, related citations]

  11. Li, C. H., Dixon, J. S., Chung, D. Amino acid sequence of human chorionic somatomammotropin. Arch. Biochem. Biophys. 155: 95-110, 1973. [PubMed: 4712450, related citations] [Full Text]

  12. MacLeod, J. N., Lee, A. K., Liebhaber, S. A., Cooke, N. E. Developmental control and alternative splicing of the placentally expressed transcripts from the human growth hormone gene cluster. J. Biol. Chem. 267: 14219-14226, 1992. [PubMed: 1378436, related citations]

  13. McWilliams, D., Callahan, R. C., Boime, I. Human placental lactogen mRNA and its structural genes during pregnancy: quantitation with a complementary DNA. Proc. Nat. Acad. Sci. 74: 1024-1027, 1977. [PubMed: 66681, related citations] [Full Text]

  14. Ng, E. K. O., Tsui, N. B. Y., Lau, T. K., Leung, T. N., Chiu, R. W. K., Panesar, N. S., Lit, L. C. W., Chan, K.-W., Lo, Y. M. D. mRNA of placental origin is readily detectable in maternal plasma. Proc. Nat. Acad. Sci. 100: 4748-4753, 2003. [PubMed: 12644709, images, related citations] [Full Text]

  15. Owerbach, D., Rutter, W. J., Martial, J. A., Baxter, J. D., Shows, T. B. Genes for growth hormone, chorionic somatomammotropin and growth hormone-like genes on chromosome 17 in humans. Science 209: 289-292, 1980. [PubMed: 7384802, related citations] [Full Text]

  16. Parks, J. S., Nielsen, P. V., Sexton, L. A., Jorgensen, E. H. An effect of gene dosage on production of human chorionic somatomammotropin. J. Clin. Endocr. Metab. 60: 994-997, 1985. [PubMed: 2984239, related citations] [Full Text]

  17. Phillips, J. A. Personal Communication. Baltimore, Md. 1/17/1983.

  18. Schwarzler, P., Untergasser, G., Hermann, M., Dirnhofer, S., Abendstein, B., Madersbacher, S., Berger, P. Selective growth hormone/placental lactogen gene transcription and hormone production in pre- and postmenopausal human ovaries. J. Clin. Endocr. Metab. 82: 3337-3341, 1997. [PubMed: 9329365, related citations] [Full Text]

  19. Seeburg, P. H., Shine, J., Martial, J. A., Ullrich, A., Goodman, H. M., Baxter, J. D. Nucleotide sequence of a human gene coding for a polypeptide hormone. Trans. Assoc. Am. Phys. 90: 109-116, 1977. [PubMed: 611657, related citations]

  20. Shine, J., Seeburg, P. H., Martial, J. A., Baxter, J. D., Goodman, H. M. Construction and analysis of recombinant DNA for human chorionic somatomammotropin. Nature 270: 494-499, 1977. [PubMed: 593368, related citations] [Full Text]

  21. Simon, P., Decoster, C., Brocas, H., Schwers, J., Vassart, G. Absence of human chorionic somatomammotropin during pregnancy associated with two types of gene deletion. Hum. Genet. 74: 235-238, 1986. [PubMed: 2877929, related citations] [Full Text]

  22. Vnencak-Jones, C. L., Phillips, J. A., III, Chen, E. Y., Seeburg, P. H. Molecular basis of growth hormone gene deletions. (Abstract) Am. J. Hum. Genet. 41: A244 only, 1987.

  23. Wurzel, J. M., Parks, J. S., Herd, J. E., Nielsen, P. V. A gene deletion is responsible for absence of human chorionic somatomammotropin. DNA 1: 251-257, 1982. [PubMed: 7169010, related citations] [Full Text]


Victor A. McKusick - updated : 6/6/2003
John A. Phillips, III - updated : 7/3/2001
Rebekah S. Rasooly - updated : 12/21/1998
Rebekah S. Rasooly - updated : 12/15/1998
John A. Phillips, III - updated : 12/25/1997
Creation Date:
Victor A. McKusick : 6/2/1986
carol : 04/08/2021
carol : 01/22/2020
carol : 01/21/2020
carol : 10/13/2016
terry : 04/30/2010
alopez : 2/15/2010
tkritzer : 6/19/2003
tkritzer : 6/17/2003
terry : 6/6/2003
cwells : 2/11/2003
cwells : 7/3/2001
alopez : 2/10/1999
alopez : 12/21/1998
alopez : 12/15/1998
carol : 11/30/1998
terry : 6/5/1998
alopez : 1/23/1998
alopez : 1/23/1998
mark : 1/10/1998
alopez : 10/2/1997
mimadm : 11/5/1994
davew : 8/5/1994
terry : 5/13/1994
warfield : 4/12/1994
supermim : 3/16/1992
supermim : 3/20/1990

* 150200

CHORIONIC SOMATOMAMMOTROPIN HORMONE 1; CSH1


Alternative titles; symbols

CHORIONIC SOMATOMAMMOTROPIN A; CSA; CSMT
LACTOGEN, PLACENTAL; PL


HGNC Approved Gene Symbol: CSH1

Cytogenetic location: 17q23.3     Genomic coordinates (GRCh38): 17:63,894,918-63,896,574 (from NCBI)


Gene-Phenotype Relationships

Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
17q23.3 [Placental lactogen deficiency] 1

TEXT

Cloning and Expression

Chorionic somatomammotropin hormone is structurally, immunologically, and functionally similar to pituitary growth hormone (GH; 139250). It is synthesized by the placental syncytiotrophoblast and therefore its genetic determination is a function of the fetal genome. Human lactogen has 190 amino acid residues and a molecular weight of 22,125 Da. The first cloning of a human gene sequence, that of chorionic somatomammotropin, was reported by Shine et al. (1977). From studies of cDNA transcribed from human placental lactogen mRNA, McWilliams et al. (1977) concluded that there are 2 copies of the gene per haploid genome.

Owerbach et al. (1980) reported that GH and CSH have 191 amino acid residues and show about 85% homology in amino acid sequence. Their messenger RNAs have more than 90% homology.

Chen et al. (1989) reported that each gene in the GH/CS gene cluster encodes a precursor protein of approximately 200 amino acids. The N-terminal 26 residues of each precursor protein function as a signal sequence.

MacLeod et al. (1992) stated that the CSA AND CSB (CSH2; 118820) genes encode identical mature proteins. Using Northern blot and RT-PCR analyses, they found that CS expression increases sharply between 12 and 20 weeks of gestation, then plateaus and remains stable through term. CSA and CSB mRNA levels are approximately equal at 8 weeks' gestation, but CSA is expressed 5-fold more abundantly than CSB by term. A small percentage of CS transcripts stably retain intron 4 through gestation, the majority of which are derived from CSA.


Evolution

Owerbach et al. (1980) estimated that the GH and CSH genes diverged about 50 to 60 million years ago, whereas the prolactin (PRL; 176760) and GH genes diverged about 400 million years ago.

Baxter (1981) found that human PL and human GH are more alike than are rat GH and human GH. (Placental lactogen has more growth-promoting effects than milk-producing effects.) He proposed that in evolution the prolactin gene diverged early from the gene that was the common progenitor of the GH and PL genes.


Gene Structure

Chen et al. (1989) reported that each gene in the CS/GH gene cluster spans 66,495 bp and contains 5 exons.


Mapping

By a combination of restriction mapping and somatic cell hybridization, Owerbach et al. (1980) assigned genes for growth hormone, chorionic somatomammotropin, and a third growth hormone-like gene (GHL; 139240) to chromosome 17. There appeared to be 3 CS genes and 2 GH genes. The cloned genes have similar intervening sequences.

By in situ hybridization, Harper et al. (1982) assigned the placental lactogen-growth hormone gene cluster to 17q22-q24. A clone of cDNA to PL mRNA was tritium-labeled by nick translation and hybridized in situ to human chromosome preparations in the presence of 10% dextran sulfate. A gene copy number experiment showed that both genes are present in about 3 copies per haploid genome. The sequence of genes in the growth hormone-placental lactogen gene family is thought to be: GH-CSL-CSA-GHV-CSB (Phillips, 1983).


Gene Function

Human GH modulates and regulates intraovarian reproductive processes in a dose-dependent manner via the endocrine growth hormone-releasing hormone (GHRH; 139190)/GH/insulinlike growth factor I (IGF1; 147440) axis. Schwarzler et al. (1997) investigated the possibility of gene-selective intraovarian GH/placental lactogen (PL) hormone production, with emphasis on differences between pre- and post-menopause. Analysis of both premenopausal and postmenopausal ovarian-derived mRNA by RT-PCR, which amplifies all major gene products of the GH/PL gene cluster, detected transcripts in all specimens. No difference was observed between pre- and postmenopausal ovarian GHN, but PL mRNA values were 2 to 3 orders of magnitude lower in postmenopausal tissue (p less than 0.001). Serum levels of healthy premenopausal and postmenopausal women were less than 0.02 ng PL/mL. Schwarzler et al. (1997) concluded that ovarian-derived GHN and PLA/B synthesis correlates well with the established local cascade of GHRH, GHRH receptor (139191), GH receptor (600946), IGF1, and IGF1 receptor (147370) as a putative para/autocrine regulator of ovarian reproductive function.

Jiang et al. (1999) noted that human chorionic somatomammotropin gene expression in the placenta is controlled by an enhancer (designated CSEn) containing SV40-related GT-IIC and SphI/SphII enhansons (see 189967). TEF5 (see 603170), whose mRNA is abundant in placenta, was shown to bind cooperatively to a unique, tandemly repeated element in CSEn2, suggesting that TEF5 regulates CSEn activity. The open reading frame of one 3,033-bp clone was identical to TEF5 and contained 300- and 1423-bp 5-prime and 3-prime-untranslated regions, respectively. The in vitro-generated, approximately 53-kD TEF5 polypeptide binds specifically to GT-IIC and SphI/SphII oligonucleotides. Overexpression of TEF5 in BeWo cells using the intact 3,033-bp cDNA transactivates the chorionic somatomammotropin and SV40 enhancers and artificial enhancers composed of tandemly repeated GT-IIC enhansons, but not control octomeric enhansons. The authors concluded that TEF5 is a transactivator that is likely involved in the transactivation of CSEn function.

Prenatal Screening

Ferguson-Smith (2003) traced the development of noninvasive approaches to prenatal screening and diagnosis and commented on the use of circulating fetal nucleic acid in maternal plasma. Ng et al. (2003) provided direct evidence that the placenta is an important source of fetal nucleic acid release into maternal plasma by demonstrating that mRNA transcripts from 2 placenta-expressed genes, those coding for placental lactogen and the beta subunit of chorionic gonadotropin (CGB; 118860), are readily detectable in maternal plasma. The surprising stability of such placental mRNA species in maternal plasma and their rapid clearance after delivery demonstrated that circulating mRNA molecules are practical markers for clinical use.


Molecular Genetics

Monitoring of maternal serum CS for assessment of fetal health has disclosed several examples of CS deficiency in otherwise normal pregnancies. Wurzel et al. (1982) examined the GH and CS family of genes in genomic DNA from an infant with complete antenatal deficiency of CS. Although the growth hormone genes were present, the CS genes were apparently deleted, the infant being homozygous for a deletion with a minimum length of 18.5 kb. The infant showed no abnormality of intrauterine or extrauterine growth and development. Because of evolutionary conservation, the CS gene is presumably not superfluous. Grumbach et al. (1973) suggested that the actions of the hormone in producing insensitivity to insulin and in promoting lipolysis and ketogenesis favor supply of nutrients to the fetus during periods of maternal fasting.

Simon et al. (1986) studied 2 patients with complete absence of human somatomammotropin despite an otherwise uneventful pregnancy. After delivery, DNA was prepared from the neonate blood or from the placenta and the integrity of the CS-GH gene cluster was studied by Southern blotting and hybridization with a CS cDNA probe. One patient was found to be homozygous for a deletion involving CSA, GHV, and CSB. Patient 2 was a compound heterozygote; one chromosome bore the same deletion as that in patient 1, while the other had only the CSA gene missing. Simon et al. (1986) estimated that 2% of persons are heterozygous carriers. Inasmuch as the heterozygous state is probably characterized by reduced CS production, it may be expected that 1 out of 50 pregnancies would have subnormal CS levels of genetic origin. Parks et al. (1985) demonstrated a gene dosage effect depending on the number of loci deleted, a situation somewhat comparable to that in the alpha-thalassemias.


History

Seeburg et al. (1977) determined the nucleotide sequence of a portion of the CS gene. Placenta, which contains CSH mRNA, was taken at cesarean section. The poly(A)+ RNA was obtained and cDNA was prepared using reverse transcriptase. The cDNA was then cleaved at specific sites using restriction endonucleases. The fragments were separated and isolated on polyacrylamide gels and their sequences determined.


See Also:

Dayhoff (1972); Fiddes et al. (1979); George et al. (1981); Kidd and Saunders (1982); Li et al. (1973); Vnencak-Jones et al. (1987)

REFERENCES

  1. Baxter, J. D. Personal Communication. San Francisco, Calif. 1/13/1981.

  2. Chen, E. Y., Liao, Y.-C., Smith, D. H., Barrera-Saldana, H. A., Gelinas, R. E., Seeburg, P. H. The human growth hormone locus: nucleotide sequence, biology, and evolution. Genomics 4: 479-497, 1989. [PubMed: 2744760] [Full Text: https://doi.org/10.1016/0888-7543(89)90271-1]

  3. Dayhoff, M. O. Hormones, active peptides and toxins. Atlas of Protein Sequence and Structure. Vol. 5. Washington: National Biomedical Research Foundation (pub.) 1972. P. D201.

  4. Ferguson-Smith, M. A. Placental mRNA in maternal plasma: prospects for fetal screening. (Commentary) Proc. Nat. Acad. Sci. 100: 4360-4362, 2003. [PubMed: 12682290] [Full Text: https://doi.org/10.1073/pnas.0830966100]

  5. Fiddes, J. C., Seeburg, P. H., DeNoto, F. M., Hallewell, R. A., Baxter, J. D., Goodman, H. M. Structure of genes for human growth hormone and chorionic somatomammotropin. Proc. Nat. Acad. Sci. 76: 4294-4298, 1979. [PubMed: 291965] [Full Text: https://doi.org/10.1073/pnas.76.9.4294]

  6. George, D. L., Phillips, J. A., III, Francke, U., Seeburg, P. H. The genes for growth hormone and chorionic somatomammotropin are on the long arm of human chromosome 17 in region q21-to-qter. Hum. Genet. 57: 138-141, 1981. [PubMed: 6262212] [Full Text: https://doi.org/10.1007/BF00282009]

  7. Grumbach, M. M., Kaplan, S. L., Vinik, A. hCS physiology: hormonal effects. In: Berson, S. A.; Yalow, R. S. (eds.): Peptide Hormones. Vol. 2B. New York: Elsevier/North Holland (pub.) 1973. Pp. 797-819.

  8. Harper, M. E., Barrera-Saldana, H. A., Saunders, G. F. Chromosomal localization of the human placental lactogen-growth hormone gene cluster to 17q22-24. Am. J. Hum. Genet. 34: 227-234, 1982. [PubMed: 7072716]

  9. Jiang, S.-W., Wu, K., Eberhardt, N. L. Human placental TEF-5 transactivates the human chorionic somatomammotropin gene enhancer. Molec. Endocr. 13: 879-889, 1999. [PubMed: 10379887] [Full Text: https://doi.org/10.1210/mend.13.6.0288]

  10. Kidd, V. J., Saunders, G. F. Linkage arrangement of human placental lactogen and growth hormone genes. J. Biol. Chem. 257: 10673-10680, 1982. [PubMed: 6286668]

  11. Li, C. H., Dixon, J. S., Chung, D. Amino acid sequence of human chorionic somatomammotropin. Arch. Biochem. Biophys. 155: 95-110, 1973. [PubMed: 4712450] [Full Text: https://doi.org/10.1016/s0003-9861(73)80012-8]

  12. MacLeod, J. N., Lee, A. K., Liebhaber, S. A., Cooke, N. E. Developmental control and alternative splicing of the placentally expressed transcripts from the human growth hormone gene cluster. J. Biol. Chem. 267: 14219-14226, 1992. [PubMed: 1378436]

  13. McWilliams, D., Callahan, R. C., Boime, I. Human placental lactogen mRNA and its structural genes during pregnancy: quantitation with a complementary DNA. Proc. Nat. Acad. Sci. 74: 1024-1027, 1977. [PubMed: 66681] [Full Text: https://doi.org/10.1073/pnas.74.3.1024]

  14. Ng, E. K. O., Tsui, N. B. Y., Lau, T. K., Leung, T. N., Chiu, R. W. K., Panesar, N. S., Lit, L. C. W., Chan, K.-W., Lo, Y. M. D. mRNA of placental origin is readily detectable in maternal plasma. Proc. Nat. Acad. Sci. 100: 4748-4753, 2003. [PubMed: 12644709] [Full Text: https://doi.org/10.1073/pnas.0637450100]

  15. Owerbach, D., Rutter, W. J., Martial, J. A., Baxter, J. D., Shows, T. B. Genes for growth hormone, chorionic somatomammotropin and growth hormone-like genes on chromosome 17 in humans. Science 209: 289-292, 1980. [PubMed: 7384802] [Full Text: https://doi.org/10.1126/science.7384802]

  16. Parks, J. S., Nielsen, P. V., Sexton, L. A., Jorgensen, E. H. An effect of gene dosage on production of human chorionic somatomammotropin. J. Clin. Endocr. Metab. 60: 994-997, 1985. [PubMed: 2984239] [Full Text: https://doi.org/10.1210/jcem-60-5-994]

  17. Phillips, J. A. Personal Communication. Baltimore, Md. 1/17/1983.

  18. Schwarzler, P., Untergasser, G., Hermann, M., Dirnhofer, S., Abendstein, B., Madersbacher, S., Berger, P. Selective growth hormone/placental lactogen gene transcription and hormone production in pre- and postmenopausal human ovaries. J. Clin. Endocr. Metab. 82: 3337-3341, 1997. [PubMed: 9329365] [Full Text: https://doi.org/10.1210/jcem.82.10.4316]

  19. Seeburg, P. H., Shine, J., Martial, J. A., Ullrich, A., Goodman, H. M., Baxter, J. D. Nucleotide sequence of a human gene coding for a polypeptide hormone. Trans. Assoc. Am. Phys. 90: 109-116, 1977. [PubMed: 611657]

  20. Shine, J., Seeburg, P. H., Martial, J. A., Baxter, J. D., Goodman, H. M. Construction and analysis of recombinant DNA for human chorionic somatomammotropin. Nature 270: 494-499, 1977. [PubMed: 593368] [Full Text: https://doi.org/10.1038/270494a0]

  21. Simon, P., Decoster, C., Brocas, H., Schwers, J., Vassart, G. Absence of human chorionic somatomammotropin during pregnancy associated with two types of gene deletion. Hum. Genet. 74: 235-238, 1986. [PubMed: 2877929] [Full Text: https://doi.org/10.1007/BF00282540]

  22. Vnencak-Jones, C. L., Phillips, J. A., III, Chen, E. Y., Seeburg, P. H. Molecular basis of growth hormone gene deletions. (Abstract) Am. J. Hum. Genet. 41: A244 only, 1987.

  23. Wurzel, J. M., Parks, J. S., Herd, J. E., Nielsen, P. V. A gene deletion is responsible for absence of human chorionic somatomammotropin. DNA 1: 251-257, 1982. [PubMed: 7169010] [Full Text: https://doi.org/10.1089/dna.1.1982.1.251]


Contributors:
Victor A. McKusick - updated : 6/6/2003
John A. Phillips, III - updated : 7/3/2001
Rebekah S. Rasooly - updated : 12/21/1998
Rebekah S. Rasooly - updated : 12/15/1998
John A. Phillips, III - updated : 12/25/1997

Creation Date:
Victor A. McKusick : 6/2/1986

Edit History:
carol : 04/08/2021
carol : 01/22/2020
carol : 01/21/2020
carol : 10/13/2016
terry : 04/30/2010
alopez : 2/15/2010
tkritzer : 6/19/2003
tkritzer : 6/17/2003
terry : 6/6/2003
cwells : 2/11/2003
cwells : 7/3/2001
alopez : 2/10/1999
alopez : 12/21/1998
alopez : 12/15/1998
carol : 11/30/1998
terry : 6/5/1998
alopez : 1/23/1998
alopez : 1/23/1998
mark : 1/10/1998
alopez : 10/2/1997
mimadm : 11/5/1994
davew : 8/5/1994
terry : 5/13/1994
warfield : 4/12/1994
supermim : 3/16/1992
supermim : 3/20/1990