Mutational analysis of the human FATE gene in 144 infertile men

Human Genetics

Volumn 113, Issue 3, 2003, Pages 195-201

  Olesen, Christian ^a,b   Silber, Joachim ^b   Eiberg, Hans ^b   Ernst, Erik ^c   Petersen, Karsten ^d   Lindenberg, Svend ^e   Tommerup, Niels ^b  

^a Rigshospitalet   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c AARHUS UNIVERSITY HOSPITAL   (Denmark)

^d Ciconia Fertility Clinic   (Denmark)

^e GENTOFTE UNIVERSITY HOSPITAL   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

POLYPEPTIDE; POLYPEPTIDE FATE; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ARTIFICIAL INSEMINATION; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; DISEASE COURSE; EXON; FAMILY STUDY; FEMALE; FEMALE FERTILITY; FERTILIZATION IN VITRO; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMAN; INHERITANCE; INTRON; MAJOR CLINICAL STUDY; MALE; MALE FERTILITY; MALE INFERTILITY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; RANDOMIZATION; RISK FACTOR; SEQUENCE ANALYSIS; SEX DIFFERENCE; SPERMATOZOON COUNT;

ADULT; ALANINE; AMINO ACID SEQUENCE; ANIMALS; ARGININE; CYSTEINE; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA-BINDING PROTEINS; EXONS; HUMANS; INFERTILITY, MALE; INTRONS; KARYOTYPING; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; SERINE; THREONINE; TRANSCRIPTION FACTORS; X CHROMOSOME;

EID: 0042566153     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-003-0974-9     Document Type: Article

References (32)

1. Beck-Peccoz P, Romoli R, Persani L (2000) Mutations of LH and FSH receptors. J Endocrinol Invest 23:566-572
2. Cooke HJ, Hargreave T, Elliott DJ (1998) Understanding the genes involved in spermatogenesis: A progress report. Fertil Steril 69:989-995
3. Den Dunnen JT, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121-124
4. Eiberg H, Nielsen LS, Klausen J, Dahlen M, Kristensen M, Bisgaard ML, Moller N, Mohr J (1989) Linkage between serum cholinesterase 2 (CHE2) and gamma-crystallin gene cluster (CRYG): Assignment to chromosome 2. Clin Genet 35:313-321
5. Escalier D (2001) Impact of genetic engineering on the understanding of spermatogenesis. Hum Reprod Update 7:191-210
6. Foresta C, Ferlin A, Moro E (2000) Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility. Hum Mol Genet 9:1161-1169
7. Foresta C, Moro E, Ferlin A (2001) Y chromosome microdeletions and alterations of spermatogenesis. Endocr Rev 22:226-239
8. Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R, Carrozzo R, Maestrini E, Pieretti M, Taillon-Miller P, et al (1991) A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 353:529-536
9. Goeminne L (1968) A new probably X-linked inherited syndrome: Congenital torticollis, multiple keloids, cryptorchidism and renal dysplasia. Acta Genet Med Gemellol 17:439-467
10. Gottlieb B, Beitel LK, Lumbroso R, Pinsky L, Trifiro M (1999) Update of the androgen receptor gene mutations database. Hum Mutat 14:103-114
11. Hackstein JH, Hochstenbach R, Pearson PL (2000) Towards an understanding of the genetics of human male infertility: Lessons from flies. Trends Genet 16:565-572
12. Holyoake AJ, McHugh P, Wu M, O'Carroll S, Benny P, Sin IL, Sin FY (2001) High incidence of single nucleotide substitutions in the mitochondrial genome is associated with poor semen parameters in men. Int J Androl 24:175-182
13. Huhtaniemi I, Jiang M, Nilsson C, Pettersson K (1999) Mutations and polymorphisms in gonadotropin genes. Mol Cell Endocrinol 151:89-94
14. Johnson MD (1998) Genetic risks of intracytoplasmic sperm injection in the treatment of male infertility: Recommendations for genetic counseling and screening. Fertil Steril 70:397-411
15. Kent-First M, Muallem A, Shultz J, Pryor J, Roberts K, Nolten W, Meisner L, Chandley A, Gouchy G, Jorgensen L, et al (1999) Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y-chromosome microdeletion detection. Mol Reprod Dev 53:27-41
16. Krausz C, Quintana-Murci L, Rajpert-De Meyts E, Jorgensen N, Jobling MA, Rosser ZH, Skakkebaek NE, McElreavey K (2001) Identification of a Y chromosome haplogroup associated with reduced sperm counts. Hum Mol Genet 10:1873-1877
17. Lavin MF, Concannon P, Gatti RA (1999) Eighth International Workshop on Ataxia-Telangiectasia (ATW8). Cancer Res 59:3845-3849
18. Layman LC, Cohen DP, Jin M, Xie J, Li Z, Reindollar RH, Bolbolan S, Bick DP, Sherins RR, Duck LW, et al (1998) Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism. Nat Genet 18:14-15
19. Lerman L, Beldjord C (1998) Comprehensive mutation detection with denaturing gradient gel electrophoresis. In: Cotton RGH, Edkins E, Forrest S (eds) Mutation Detection: A Practical Approach, Oxford University Press, Oxford, pp 35-59
20. Olesen C, Hansen C, Bendsen E, Byskov AG, Schwinger E, Lopez-Pajares I, Jensen PK, Kristoffersson U, Schubert R, Van Assche E, et al (2001a) Identification of human candidate genes for male infertility by digital differential display. Mol Hum Reprod 7:11-20
21. Olesen C, Larsen NJ, Byskov AG, Harboe TL, Tommerup N (2001b) Human FATE is a novel X-linked gene expressed in fetal and adult testis. Mol Cell Endocrinol 184:25-32
22. Povey S, Lovering R, Bruford E, Wright M, Lush M, Wain H (2001) The HUGO Gene Nomenclature Committee (HGNC). Hum Genet 109:678-680
23. Quack B, Speed RM, Luciani JM, Noel B, Guichaoua M, Chandley AC (1988) Meiotic analysis of two human reciprocal X-autosome translocations. Cytogenet Cell Genet 48:43-47
24. Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O, et al (1995) Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 10:383-393
25. Ruiz-Pesini E, Lapena AC, Diez-Sanchez C, Perez-Martos A, Montoya J, Alvarez E, Diaz M, Urries A, Montoro L, Lopez-Perez MJ, et al (2000) Human mtDNA haplogroups associated with high or reduced spermatozoa motility. Am J Hum Genet 67:682-696
26. Rovio AT, Marchington DR, Donat S, Schuppe HC, Abel J, Fritsche E, Elliott DJ, Laippala P, Ahola AL, McNay D, et al (2001) Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Nat Genet 29:261-262
27. Silahtaroglu A, Hol FA, Jensen PK, Erdel M, Duba HC, Geurds MP, Knoers NV, Mariman EC, Tumer Z, Utermann G, et al (1999) Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome. Eur J Hum Genet 7:68-76
28. Singson A (2001) Every sperm is sacred: Fertilization in Caenorhabditis elegans. Dev Biol 230:101-109
29. Stuhrmann M, Dork T (2000) CFTR gene mutations and male infertility. Andrologia 32:71-83
30. Sun C, Skaletsky H, Birren B, Devon K, Tang Z, Silber S, Oates R, Page DC (1999) An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. Nat Genet 23:429-432
31. Vollrath D, Foote S, Hilton A, Brown LG, Beer-Romero P, Bogan JS, Page DC (1992) The human Y chromosome: A 43-interval map based on naturally occurring deletions. Science 258:52-59
32. Zuffardi O, Fraccaro M (1982) Gene mapping and serendipity: The locus for torticollis, keloids, cryptorchidism and renal dysplasia (31430, McKusick) is at Xq28, distal to the G6PD locus. Hum Genet 62:280-281