Beta polipeptid luteinizirajućeg hormona
Beta polipeptid luteinizirajućeg hormona | |||||||
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| Identifikatori | |||||||
| Simbol | LHB | ||||||
| NCBI gen | 3972 | ||||||
| HGNC | 6584 | ||||||
| OMIM | 152780 | ||||||
| RefSeq | NM_000894 | ||||||
| UniProt | P01229 | ||||||
| Ostali podaci | |||||||
| Lokus | Hrom. 19 q{{{bend}}}{{{lokus_dopunski_podaci}}} | ||||||
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Beta podjedinica luteinizirajućeg hormona ili alutropinska podjedinica beta ili LHβ je polipeptid koji je, skupa sa glikoproteinskog hormonat zajednički za sve gonadotropinske hormone, a stvara reproduktivne signalizirajuće moleule luteinizirajućeg hormona. Kod ljudi, njegovu sintezu kodira gen LHB.[1][2]
Gen
[uredi | uredi izvor]Beta podjedinica luteinizirajućeg hormona kodirana je jednim genom kod svih sisara. U primata ovaj gen nalazi se u klasteru koji je nastao umnožavanjem gena, a uključuje i više redundantnih gena koji kodiraju beta podjedinicu horionskog gonadotropina, kao i nekoliko nefunkcionalnih pseudogena. Kod ljudi su oni povezani na poziciji 19q13.3 hromosoma 19.[2] U kopitara, beta podjedinica polipeptida luteinizirajućeg hormona i horionski gonadotropin imaju identične skeletne sekvence, a razlikuju se samo po bočnim lancima ugljikohidrata, a proizvod su jednog gena.[3]
Funkcija
[uredi | uredi izvor]Ovaj gen je član porodice glikoproteinskih hormona beta lanca i kodira beta podjedinicu luteinizirajućeg hormona (LH). Glikoproteinski hormoni su heterodimeri koji se sastoje od zajedničke podjedinice alfa i jedinstvene beta podjedinice (ovog proteina) koja daje biološku specifičnost. LH se ispoljava u hipofizi i podstiče spermatogenezu i ovulaciju, stimulirajući testise i jajnike na sintezu steroida.[2]
Klinički značaj
[uredi | uredi izvor]Mutacije u ovom genu povezane su sa hipogonadizmom koji karakterizira neplodnost i pseudohermafroditizam.[2]
Reference
[uredi | uredi izvor]- ^ Sairam MR, Li CH (Feb 1976). "Human pituitary lutropin. Isolation, properties, and the complete amino acid sequence of the beta-subunit". Biochim Biophys Acta. 412 (1): 70–81. doi:10.1016/0005-2795(75)90340-2. PMID 1191677.
- ^ a b c d "Entrez Gene: LHB luteinizing hormone beta polypeptide".
- ^ Sherman GB, Wolfe MW, Farmerie TA, Clay CM, Threadgill DS, Sharp DC, Nilson JH (juni 1992). "A single gene encodes the beta-subunits of equine luteinizing hormone and chorionic gonadotropin". Mol. Endocrinol. 6 (6): 951–9. doi:10.1210/me.6.6.951. PMID 1379674.
Dopunska literatura
[uredi | uredi izvor]- Keutmann HT, Hua QX, Weiss MA (1992). "Structure of a receptor-binding fragment from human luteinizing hormone beta-subunit determined by [1H]- and [15N]nuclear magnetic resonance spectroscopy". Mol. Endocrinol. 6 (6): 904–13. doi:10.1210/me.6.6.904. PMID 1495492.
- Weiss J, Axelrod L, Whitcomb RW, et al. (1992). "Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizing hormone". N. Engl. J. Med. 326 (3): 179–83. doi:10.1056/NEJM199201163260306. PMID 1727547.
- Weisshaar G, Hiyama J, Renwick AG, Nimtz M (1991). "NMR investigations of the N-linked oligosaccharides at individual glycosylation sites of human lutropin". Eur. J. Biochem. 195 (1): 257–68. doi:10.1111/j.1432-1033.1991.tb15702.x. PMID 1991473.
- Jameson JL, Lindell CM, Habener JF (1986). "Evolution of different transcriptional start sites in the human luteinizing hormone and chorionic gonadotropin beta-subunit genes". DNA. 5 (3): 227–34. doi:10.1089/dna.1986.5.227. PMID 2424697.
- Keutmann HT, Charlesworth MC, Mason KA, et al. (1987). "A receptor-binding region in human choriogonadotropin/lutropin beta subunit". Proc. Natl. Acad. Sci. U.S.A. 84 (7): 2038–42. doi:10.1073/pnas.84.7.2038. PMC 304579. PMID 3470775.
- Shome B, Parlow AF (1973). "The primary structure of the hormone-specific, beta subunit of human pituitary luteinizing hormone (hLH)". J. Clin. Endocrinol. Metab. 36 (3): 618–21. doi:10.1210/jcem-36-3-618. PMID 4685398.
- Closset J, Hennen G, Lequin RM (1973). "Human luteinizing hormone. The amino acid sequence of the subunit". FEBS Lett. 29 (2): 97–100. doi:10.1016/0014-5793(73)80534-4. PMID 4719207.
- Talmadge K, Vamvakopoulos NC, Fiddes JC (1984). "Evolution of the genes for the beta subunits of human chorionic gonadotropin and luteinizing hormone". Nature. 307 (5946): 37–40. doi:10.1038/307037a0. PMID 6690982.
- Beitins IZ, Axelrod L, Ostrea T, et al. (1981). "Hypogonadism in a male with an immunologically active, biologically inactive luteinizing hormone: characterization of the abnormal hormone". J. Clin. Endocrinol. Metab. 52 (6): 1143–9. doi:10.1210/jcem-52-6-1143. PMID 6785294.
- Berger P, Kranewitter W, Madersbacher S, et al. (1994). "Eutopic production of human chorionic gonadotropin beta (hCG beta) and luteinizing hormone beta (hLH beta) in the human testis". FEBS Lett. 343 (3): 229–33. doi:10.1016/0014-5793(94)80561-X. PMID 7513655.
- Keutmann HT, Rubin DA (1993). "A subunit interaction site in human luteinizing hormone: identification by photoaffinity cross-linking". Endocrinology. 132 (3): 1305–12. doi:10.1210/en.132.3.1305. PMID 7679977.
- Herrlich A, Kühn B, Grosse R, et al. (1996). "Involvement of Gs and Gi proteins in dual coupling of the luteinizing hormone receptor to adenylyl cyclase and phospholipase C". J. Biol. Chem. 271 (28): 16764–72. doi:10.1074/jbc.271.28.16764. PMID 8663226.
- Muyan M, Furuhashi M, Sugahara T, Boime I (1997). "The carboxy-terminal region of the beta-subunits of luteinizing hormone and chorionic gonadotropin differentially influence secretion and assembly of the heterodimers". Mol. Endocrinol. 10 (12): 1678–87. doi:10.1210/me.10.12.1678. PMID 8961276.
- Roy AC, Liao WX, Chen Y, et al. (1997). "Identification of seven novel mutations in LH beta-subunit gene by SSCP". Mol. Cell. Biochem. 165 (2): 151–3. doi:10.1007/bf00229477. PMID 8979264.
- Liao WX, Roy AC, Chan C, et al. (1998). "A new molecular variant of luteinizing hormone associated with female infertility". Fertil. Steril. 69 (1): 102–6. doi:10.1016/S0015-0282(97)00445-7. PMID 9457942.
- O'Connor JF, Kovalevskaya G, Birken S, et al. (1998). "The expression of the urinary forms of human luteinizing hormone beta fragment in various populations as assessed by a specific immunoradiometric assay". Hum. Reprod. 13 (4): 826–35. doi:10.1093/humrep/13.4.826. PMID 9619532.
- Takahashi K, Kurioka H, Ozaki T, et al. (1999). "Increased prevalence of luteinizing hormone beta-subunit variant in Japanese infertility patients". Hum. Reprod. 13 (12): 3338–44. doi:10.1093/humrep/13.12.3338. PMID 9886510.
- Elter K, Erel CT, Cine N, et al. (1999). "Role of the mutations Trp8 => Arg and Ile15 => Thr of the human luteinizing hormone beta-subunit in women with polycystic ovary syndrome". Fertil. Steril. 71 (3): 425–30. doi:10.1016/S0015-0282(98)00491-9. PMID 10065776.
- Jiang M, Pakarinen P, Zhang FP, et al. (1999). "A common polymorphic allele of the human luteinizing hormone beta-subunit gene: additional mutations and differential function of the promoter sequence". Hum. Mol. Genet. 8 (11): 2037–46. doi:10.1093/hmg/8.11.2037. PMID 10484773.