Human FSHβ subunit gene is highly conserved

Molecular Human Reproduction

Volumn 11, Issue 8, 2005, Pages 601-605

  Lamminen, Tarja ^a   Jokinen, Päivi ^a   Jiang, Min ^a   Pakarinen, Pirjo ^a   Simonsen, Henrik ^b,d   Huhtaniemi, Ilpo ^a,c  

^a UNIVERSITY OF TURKU   (Finland)

^b STATENS SERUM INSTITUT   (Denmark)

^c IMPERIAL COLLEGE LONDON   (United Kingdom)

^d GLOSTRUP UNIVERSITY HOSPITAL   (Denmark)

Author keywords

FSH ; Gene; Polymorphism; Population study

Indexed keywords

AMINO ACID; FOLLITROPIN BETA SUBUNIT;

ARTICLE; CAUCASIAN; CONTROLLED STUDY; DENMARK; DNA POLYMORPHISM; DNA SEQUENCE; ETHNIC DIFFERENCE; FERTILITY; FINLAND; GENE MUTATION; GENETIC CONSERVATION; HORMONE ACTION; HUMAN; HUMAN EXPERIMENT; PRIORITY JOURNAL; PROMOTER REGION; REGULATORY MECHANISM; SEQUENCE ANALYSIS;

AMINO ACID SEQUENCE; BASE SEQUENCE; CONSERVED SEQUENCE; FOLLICLE STIMULATING HORMONE, BETA SUBUNIT; GENOTYPE; HUMANS; MUTATION; POLYMORPHISM, GENETIC; PROMOTER REGIONS (GENETICS);

EID: 27144477692     PISSN: 13609947     EISSN: 14602407     Source Type: Journal    
DOI: 10.1093/molehr/gah198     Document Type: Article

References (33)

1. Aittomäki K, Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskilkari R, Sankila EM, Lehväslaiha H, Engel AR, Nieschlag E, Huhtaniemi I and de la Chapelle A (1995) Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 82,959-968.
2. den Dunnen JT and Antonarakis E (2001) Nomenclature for the description of human sequence variations. Hum Genet 109,121-124.
3. Fan QR and Hendrickson WA (2005) Structure of human follicle-stimulating hormone in complex with its receptor. Nature 433,269-277.
4. Huhtaniemi I (2003) Functional consequences of mutations and polymorphisms in gonadotropin and gonadotropin receptor genes. In Leung P and Adashi E (eds), The Ovary. Elsevier, Oxford, UK, pp. 55-78.
5. Huhtaniemi IT (2004) Male hypogonadism resulting from mutations in the genes for the gonadotropin subunits and their receptors. In Winters SJ (ed.), Male Hypogonadism. Basic, Clinical and Therapeutic Principles. Humana Press, Totowa, New Jersey, pp. 101-124.
6. Jameson JL, Becker CB, Lindell CM and Habener JF (1988) Human follicle-stimulating hormone β-subunit gene encodes multiple messenger ribonucleic acids. Mol Endocrinol 2,806-815.
7. -3Thr mutation in the signal peptide of human luternizing hormone β-subunit: Recombinant variant hormone preferentially selects inositol phosphate pathway over adenylate cyclase in vitro. Mol Hum Reprod 8,201-212.
8. 79Met in human chorionic gonadotropin-beta gene 5 in five European populations. Mol Hum Reprod 10,763-766.
9. 102Ser mutation in Asian populations. Mol Hum Reprod 8,887-892.
10. Layman LC, Lee EJ, Peak DB, Namnoum AB, Vu KV, van Lingen BL, Gray MR, McDonough PG, Reindollar RH and Jameson JL (1997) Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone β-subunit gene. N Engl J Med 337,607-611.
11. Layman LC and McDonough PG (2000) Mutations of follicle stimulating hormone-β and its receptor in human and mouse: Gentype/phenotype Mol cell Endocrinol 161,9-17.
12. Layman LC, Porto AL, Xie J, da Motta LA, da Motta LD, Weiser W and Sluss PM (2002) FSH beta gene mutations in a female with partial breast development and a male sibling with normal puberty and azoospermia. J Clin Endocrinol Metab 87,3702-3707.
13. Liao W-X, Tong Y, Roy AC and Ng SC (1998) New AccI polymorphism in the follicle-stimulating hormone beta-subunit gene and its prevalence in three southeast Asian populations. Hum Hered 49,181-182.
14. Lindstedt G, Nyström E, Matthews C, Ernest I, Janson PO and Chatterjee K (1998) Follitropin (FSH) deficiency in an infertile male due to FSHβ gene mutation. A syndrome of normal puberty and virilization but underdeveloped testicles with azoospermia, low FSH but high lutropin and normal serum testosterone concentrations. Clin Chem Lab Med 36,663-665.
15. Manna PR, Joshi L, Reinhold VN, Aubert ML, Suganuma N, Pettersson K and Huhtaniemi IT (2002) Synthesis, purification and structural and functional characteristics of recombinant form of a common genetic variant of human luteinizing hormone. Hum Mol Genet 1,301-315.
16. Matthews CH, Borgato S, Beck-Peccoz P, Adams M, Tone Y, Gambino G, Casagrande S, Tedeschini G, Benedetti A and Chatterjee VKK (1993) Primary amenorrhoea and infertility due to a mutation in the β-subunit of follicle-stimulating hormone. Nat Genet 5,83-86.
17. Miller-Lindholm AK, Bedows E, Bartels CF, Ramey J, Maclin V and Ruddon RW (1999) A naturally occurring genetic variant in the human chorionic gonadotropin-beta gene 5 is assembly inefficient. Endocrinology 140,3496-3506.
18. National Center for Biotechnology Information, SNP databank. Available from http://www.ncbi.nlm.nih.gov/projects/SNP/. (2005)
19. Nilsson C, Pettersson K, Millar RP, Coerver KA, Matzuk MM and Huhtaniemi IT (1997) Worldwide frequency of a common genetic variant of luteinizing hormone: An international collaborative research. Fertil Steril 67,998-1004.
20. Nishimura R, Shin J, Ji I, Middaugh CR, Kruggel W, Lewis RV and Ji TH (1986) A single amino acid substitution in an ectopic α subunit of a human carcinoma choriogonadotropin. J Biol Chem 261,10475-10477.
21. Norio R (2003a) Finnish disease heritage I: Characteristics, causes, background. Hum Genet 112,441-456.
22. Norio R (2003b) Finnish disease heritage II: Population prehistory and genetic roots of Finns. Hum Genet 112,457-469.
23. Phillip M, Arbelle JE, Segev Y and Parvari R (1998) Male hypogonadism due to a mutation in the gene for the beta-subunit of follicle-stimulating hormone. N Engl J Med 338,1729-1732.
24. Pierce JG and Parsons TF (1981) Glycoprotein hormones: Structure and function. Annu Rev Biochem 50,464-495.
25. Rabinowitz D, Benveniste R, Linder J, Lorber D and Daniell J (1979) Isolated follicle-stimulating hormone deficiency revisited. Ovulation and conception in presence of circulating antibody to follicle-stimulating hormone. N Engl J Med 300,126-128.
26. Ramanujam LN, Liao WX, Roy AC and Ng SC (1999) Screening of a mutation in luteinizing hormone beta-subunit in male infertile patients. The Endocrine Society's 81st Annual Meeting [abstract], June 12-15, San Diego, CA, USA.
27. Rosser ZH, Zerjal T, Hurles ME, Adojaan M, Alavantic D, Amorim A, Amos W, Armenteros M, Arroyo E, Barbujani G et al. (2000) Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language. Am J Hum Genet 67,1526-1543.
28. Roy AC, Liao W-X, Chen Y, Arulkumaran S and Ratnam SS (1996) Identification of seven novel mutations in LH P-subunit by SSCP. Mol Cell Biochem 165,151-153.
29. Simoni M, Gromoll J and Nieschlag E (1997) The follicle-stimulating hormone receptor: Biochemistry, molecular biology, physiology and pathophysiology. Endocrinol Rev 18,739-773.
30. Tapanainen JS, Aittomäki K, Jiang M, Vaskivuo T and Huhtaniemi IT (1997) Men homozygous for an inactivating mutation in the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility. Nat Genet 15,205-206.
31. Tong Y, Liao W-X, Roy C and Ng SC (2000) Association of AccI polymorphism in the follicle-stimulating hormone β gene with polycystic ovary syndrome. Fertil Steril 74,1233-1236.
32. Valdes-Socin H, Salvi R, Daly AF, Gaillard RC, Quatresooz P, Tebeu PM, Pralong FP and Beckers A (2004) Hypogonadism in a patient with a mutation in the luteinizing hormone beta-subunit gene. N Engl J Med 16,2619-2625.
33. Weiss J, Axelrod L, Whitcomb RW, Crowley WF and Jameson JL (1992) Hypogonadism caused by a single amino acid substitution in the β subunit of luteinizing hormone. N Engl J Med 326,179-183.