| References |
|
|
Aknin-Seifer IE,
Touraine RL,
Lejeune H et al.
(2005)
Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study.
Human Reproduction
20:
736–740.
|
|
|
Aoki VW,
Emery BR,
Liu L and
Carrell DT
(2006)
Protamine levels vary between individual sperm cells of infertile human males and correlate with viability and DNA integrity.
Journal of Andrology
27:
890–898.
|
|
|
Asatiani K,
von Eckardstein S,
Simoni M,
Gromoll J and
Nieschlag E
(2003)
CAG repeat length in the androgen receptor gene affects the risk of male infertility.
Internationl Journal of Andrology
26:
255–261.
|
|
|
Aschim EL,
Giwercman A,
Stahl O et al.
(2005)
The RsaI polymorphism in the estrogen receptor-beta gene is associated with male infertility.
Journal of Clinical Endocrinology and Metabolism
90:
5343–5348.
|
|
|
Bartoloni L,
Cazzadore C,
Ferlin A,
Garolla A and
Foresta C
(2004)
Lack of the T54A polymorphism of the DAZL gene in infertile Italian patients.
Molecular Human Reproduction
10:
613–615.
|
|
|
Becherini L,
Guarducci E,
Degl'Innocenti S et al.
(2004)
DAZL polymorphisms and susceptibility to spermatogenic failure: an example of remarkable ethnic differences.
International Journal of Andrology
27:
375–381.
|
|
|
Beranova M,
Oliveira LM,
Bedecarrats GY et al.
(2001)
Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism.
Journal of Clinical Endocrinology and Metabolism
86:
1580–1588.
|
|
|
Bhangoo A and
Jacobson-Dickman E
(2009)
The genetics of idiopathic hypogonadotropic hypogonadism: unraveling the biology of human sexual development.
Pediatric Endocrinology
6:
395–404.
|
|
|
Brusco A,
Michielotto C,
Gatta V et al.
(2006)
The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase gamma gene is not associated with oligozoospermia.
Journal of Endocrinological Investigation
29:
1–4.
|
|
|
Carrell DT,
Emery BR and
Hammoud S
(2007)
Altered protamine expression and diminished spermatogenesis: what is the link?
Human Reproduction Update
13:
313–327.
|
|
|
Ferlin A,
Vinanzi C,
Garolla A et al.
(2006)
Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations.
Clinical Endocrinology
65:
106–160.
|
|
|
Galan JJ,
Guarducci E,
Nuti F et al.
(2007)
Molecular analysis of estrogen receptor alpha gene AGATA haplotype and SNP12 in European populations: potential protective effect for cryptorchidism and lack of association with male infertility.
Human Reproduction
22:
444–449.
|
|
|
Giachini C,
Guarducci E,
Longepied G et al.
(2005)
The gr/gr deletion(s): a new genetic test in male infertility?
Journal of Medical Genetics
42:
497–502.
|
|
|
Giachini C,
Laface I,
Guarducci E et al.
(2008)
Partial AZFc deletions and duplications: clinical correlates in the Italian population.
Human Genetics
124:
399–410.
|
|
|
Guarducci E,
Nuti F,
Becherini L et al.
(2006)
Estrogen receptor {alpha} promoter polymorphism: stronger estrogen action is coupled with lower sperm count.
Human Reproduction
21:
994–1001.
|
|
|
Harris TP,
Gomas KP,
Weir F et al.
(2006)
Molecular analysis of polymerase gamma gene and mitochondrial polymorphism in fertile and subfertile men.
International Journal of Andrology
29:
421–433.
|
|
|
Hiort O,
Holterhus PM,
Horter T et al.
(2000)
Significance of mutations in the androgen receptor gene in males with idiopathic infertility.
Journal of Clinical Endocrinology and Metabolism
85:
2810–2815.
|
|
|
Huhtaniemi I
(2006)
Mutations along the pituitary-gonadal axis affecting sexual maturation: novel information from transgenic and knockout mice.
Molecular and Cellular Endocrinology
25:
254–255:84–90.
|
|
|
Iguchi N,
Yang S,
Lamb DJ and
Hecht NB
(2005)
An SNP in protamine 1: a possible genetic cause of male infertility?
Journal of Medical Genetics
43:
382–384.
|
|
|
Jensen M,
Leffers H,
Petersen JH et al.
(2004)
Frequent polymorphism of the mitochondrial DNA polymerase gamma gene (POLG) in patients with normal spermiograms and unexplained subfertility.
Human Reproduction
19:
65–70.
|
|
|
Krausz C and
Degl'Innocenti S
(2006)
Y chromosome and male infertility: update, 2006.
Frontiers in Bioscience
11:
3049–3061.
|
|
|
Krausz C,
Degl'Innocenti S,
Nuti F et al.
(2006)
Natural transmission of USP9Y gene mutations: a new perspective on the role of AZFa genes in male fertility.
Human Molecular Genetics
15:
2673–2681.
|
|
|
Krausz C and
Giachini C
(2007)
Genetic risk factors in male infertility.
Archives of Andrology
53:
125–133.
|
|
|
Krausz C,
Giachini C,
Xue Y et al.
(2009)
Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background.
Journal of Medical Genetics
46:
21–31.
|
|
|
Krausz C,
Guarducci E,
Becherini L et al.
(2004)
The clinical significance of the POLG gene polymorphism in male infertility.
Journal of Clinical Endocrinology and Metabolism
89:
4292–4297.
|
|
|
Kusz K,
Ginter-Matuszewska B,
Ziolkowska K et al.
(2007)
Polymorphisms of the human PUMILIO2 gene and male sterility.
Molecular Reproduction and Development
74:
795–799.
|
|
|
Lau YF
(1999)
Gonadoblastoma, testicular and prostate cancers, and the TSPY gene.
American Journal of Human Genetics
64:
921–927.
|
|
|
Lepretre AC,
Patrat C,
Jouannet P and
Bienvenu T
(2004)
Mutation analysis of the BOULE gene in men with non-obstructive azoospermia: identification of a novel polymorphic variant in the black population.
International Journal of Andrology
27:
301–303.
|
|
|
Lin YW,
Hsu LC,
Kuo PL et al.
(2007)
Partial duplication at AZFc on the Y chromosome is a risk factor for impaired spermatogenesis in Han Chinese in Taiwan.
Human Mutation
28:
486–494.
|
|
|
Luddi A,
Margollicci M,
Gambera L et al.
(2009)
Spermatogenesis in a man with complete deletion of USP9Y.
New England Journal of Medicine
360:
881–885.
|
|
|
Lundin KB,
Giwercman A,
Dizeyi N and
Giwercman YL
(2007)
Functional in vitro characterisation of the androgen receptor GGN polymorphism.
Molecular and Cellular Endocrinology
264:
184–187.
|
|
|
Martínez J,
Bonache S,
Carvajal A,
Bassas L and
Larriba S
(2007)
Mutations of SYCP3 are rare in infertile Spanish men with meiotic arrest.
Fertility and Sterility
88:
988–989.
|
|
|
McElreavey K and
Krausz C
(1999)
Sex chromosome genetics ‘99. Male infertility and the Y chromosome.
American Journal of Human Genetics
64:
928–933.
|
|
|
Miyamoto T,
Hasuike S,
Yogev L et al.
(2003)
Azoospermia in patients heterozygous for a mutation in SYCP3.
Lancet
22:
1714–1719.
|
|
|
Paduch DA,
Mielnik A and
Schlegel PN
(2005)
Novel mutations in testis-specific ubiquitin protease 26 gene may cause male infertility and hypogonadism.
Reproductive Biomedicine Online
10:
747–754.
|
|
|
Pitteloud N,
Acierno JS Jr,
Meysing AU et al.
(2005)
Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene.
Journal of Clinical Endocrinology and Metabolism
90:
1317–1322.
|
|
|
Platts AE,
Dix DJ,
Chemes HE et al.
(2007)
Success and failure in human spermatogenesis as revealed by teratozoospermic RNAs.
Human Molecular Genetics
16:
763–773.
|
|
|
Rajender S,
Singh L and
Thangaraj K
(2007)
Phenotypic heterogeneity of mutations in androgen receptor gene.
Asian Journal of Andrology
9:
147–179.
|
|
|
Ravel C,
Chantot-Bastaraud S,
El Houate B et al.
(2007)
Mutations in the protamine 1 gene associated with male infertility.
Molecular Human Reproduction
13:
461–464.
|
|
|
Ravel C,
El Houate B,
Chantot S et al.
(2006)
Haplotypes, mutations and male fertility: the story of the testis-specific ubiquitin protease USP26.
Molecular Human Reproduction
12:
643–646.
|
|
|
Reijo R,
Lee TY,
Salo P et al.
(1995)
Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene.
Nature Genetics
10:
383–393.
|
|
|
Repping S,
Skaletsky H,
Brown L et al.
(2003)
Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection.
Nature Genetics
35:
247–251.
|
|
|
Reynolds N,
Collier B,
Bingham V,
Gray NK and
Cooke HJ
(2007)
Translation of the synaptonemal complex component Sycp3 is enhanced in vivo by the germ cell specific regulator Dazl.
RNA
13:
974–981.
|
|
|
Singh R,
Deepa SR,
Madhavi S et al.
(2006)
Male infertility: no evidence of involvement of androgen receptor gene among Indian men.
Journal of Andrology
27:
102–105.
|
|
|
Sinisi AA,
Esposito D,
Maione L et al.
(2008)
Seminal anti-Müllerian hormone level is a marker of spermatogenic response during long-term gonadotropin therapy in male hypogonadotropic hypogonadism.
Human Reproduction
23:
1029–1034.
|
|
|
Skaletsky H,
Kuroda-Kawaguchi T,
Minx PJ et al.
(2003)
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes.
Nature
423:
825–837.
|
|
|
Smith EP,
Boyd J,
Frank GR et al.
(1994)
Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man.
New England Journal of Medicine
331:
1056–1061.
|
|
|
Stern LL,
Mason JB,
Selhub J and
Choi SW
(2000)
Genomic DNA hypomethylation, a characteristic of most cancers, is present in peripheral leukocytes of individuals who are homozygous for the C677T polymorphism in the methylenetetrahydrofolate reductase gene.
Cancer Epidemiology, Biomarkers & Prevention
9:
849–853.
|
|
|
Stouffs K,
Lissens W,
Tournaye H,
Van Steirteghem A and
Liebaers I
(2005a)
SYCP3 mutations are uncommon in patients with azoospermia.
Fertility and Sterility
84:
1019–1020.
|
|
|
Stouffs K,
Lissens W,
Tournaye H,
Van Steirteghem A and
Liebaers I
(2005b)
Possible role of USP26 in patients with severely impaired spermatogenesis.
European Journal of Human Genetics
13:
336–340.
|
|
|
Stouffs K,
Lissens W,
Tournaye H,
Van Steirteghem A and
Liebaers I
(2006a)
Alterations of the USP26 gene in Caucasian men.
International Journal of Andrology
29:
614–617.
|
|
|
Stouffs K,
Willems A,
Lissens W et al.
(2006b)
The role of the testis-specific gene hTAF7L in the aetiology of male infertility.
Molecular Human Reproduction
12:
263–267.
|
|
|
Sun C,
Skaletsky H,
Birren B et al.
(1999)
An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y.
Nature Genetics
23:
429–432.
|
|
|
Tanaka H,
Miyagawa Y,
Tsujimura A et al.
(2003)
Single nucleotide polymorphisms in the protamine-1 and -2 genes of fertile and infertile human male populations.
Molecular Human Reproduction
9:
69–73.
|
|
|
Teng YN,
Lin YM,
Lin YH et al.
(2002)
Association of a single-nucleotide polymorphism of the deleted-in-azoospermia-like gene with susceptibility to spermatogenic failure.
Journal of Clinical Endocrinology and Metabolism
87:
5258–5264.
|
|
|
Teng YN,
Lin YM,
Sun HF et al.
(2006)
Association of DAZL haplotypes with spermatogenic failure in infertile men.
Fertility and Sterility
86:
129–135.
|
|
|
Trarbach EB,
Silveira LG and
Latronico AC
(2007)
Genetic insights into human isolated gonadotropin deficiency.
Pituitary
10:
381–391.
|
|
|
Tschanter P,
Kostova E,
Luetjens CM et al.
(2004)
No association of the A260G and A386G DAZL single nucleotide polymorphisms with male infertility in a Caucasian population.
Human Reproduction
19:
2771–2776.
|
|
|
Tung JY,
Rosen MP,
Nelson LM et al.
(2006a)
Variants in deleted in AZoospermia-like (DAZL) are correlated with reproductive parameters in men and women.
Human Genetics
118:
730–740.
|
|
|
Tung JY,
Rosen MP,
Nelson LM et al.
(2006b)
Novel missense mutations of the deleted-in-AZoospermia-like (DAZL) gene in infertile women and men.
Reproductive Biology and Endocrinology
4:
40.
|
|
|
Tut TG,
Ghadessy FJ,
Trifiro MA,
Pinsky L and
Yong EL
(1997)
Long polyglutamine tracts in the androgen receptor are associated with reduced trans-activation, impaired sperm production, and male infertility.
Journal of Clinical Endocrinology and Metabolism
82:
3777–3782.
|
|
|
Tyler-Smith C and
Krausz C
(2009)
The will-o'-the-wisp of genetics – hunting for the azoospermia factor gene.
New England Journal of Medicine
360:
925–927.
|
|
|
Vodicka R,
Vrtel R,
Dusek L et al.
(2007)
TSPY gene copy number as a potential new risk factor for male infertility.
Reproductive Biomedicine Online
14:
579–587.
|
|
|
Vogt PH,
Edelmann A,
Kirsch S et al.
(1996)
Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11.
Human Molecular Genetics
5:
933–943.
|
|
|
Wang PJ,
McCarrey JR,
Yang F and
Page DC
(2001)
An abundance of X-linked genes expressed in spermatogonia.
Nature Genetics
27:
422–426.
|
|
|
Westerveld GH,
Kaaij-Visser L,
Tanck M,
van der Veen F and
Repping S
(2008)
CAG repeat length variation in the polymerase gamma (POLG) gene: effect on semen quality.
Molecular Human Reproduction
14:
245–249.
|
|
|
Westerveld GH,
Repping S,
Leschot NJ,
van der Veen F and
Lombardi MP
(2005a)
Mutations in the human BOULE gene are not a major cause of impaired spermatogenesis.
Fertility and Sterility
83:
513–515.
|
|
|
Westerveld GH,
Repping S,
Lombardi MP and
van der Veen F
(2005b)
Mutations in the chromosome pairing gene FKBP6 are not a common cause of non-obstructive azoospermia.
Molecular Human Reproduction
11:
673–675.
|
|
|
Yatsenko AN,
Roy A,
Chen R et al.
(2006)
Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL10 mutations in oligozoospermic patients impair homodimerization.
Human Molecular Genetics
15:
3411–3419.
|
|
|
Yen PH
(2004)
Putative biological functions of the DAZ family.
International Journal of Andrology
27:
125–129.
|
|
|
Yen PH,
Chai NN and
Salido EC
(1996)
The human autosomal gene DAZLA: testis specificity and a candidate for male infertility.
Human Molecular Genetics
5:
2013–2017.
|
|
|
Yuan L,
Liu JG,
Zhao J et al.
(2000)
The murine SCP3 gene is required for synaptonemal complex assembly, chromosome synapsis, and male fertility.
Molecular Cell
5:
73–83.
|
| Further Reading |
|
|
Bhagavath B and
Layman LC
(2007)
The genetics of hypogonadotropic hypogonadism.
Seminars in Reproductive Medicine
25:
272–286.
|
|
|
Gottlieb B,
Beitel LK,
Wu JH and
Trifiro M
(2004)
The androgen receptor gene mutations database (ARDB).
Human Mutation
23:
527–533.
|
|
|
Hardelin JP and
Dodé C
(2008)
The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al..
Sexual Development
2:
181–193.
|
|
|
Lange J,
Skaletsky H,
Bell GW and
Page DC
(2008)
MSY Breakpoint Mapper, a database of sequence-tagged sites useful in defining naturally occurring deletions in the human Y chromosome.
Nucleic Acids Research
36(Database issue):
D809–D814.
|
|
|
Luconi M,
Forti G and
Baldi E
(2002)
Genomic and nongenomic effects of estrogens: molecular mechanisms of action and clinical implications for male reproduction.
Journal of Steroid Biochemistry and Molecular Biology
80:
369–381.
|
|
|
Matzuk MM and
Lamb DJ
(2002)
Genetic dissection of mammalian fertility pathways.
Nature Cell Biology
4:
41–49.
|
|
|
Nuti F and
Krausz C
(2008)
Gene polymorphisms/mutations relevant to abnormal spermatogenesis.
Reproductive Biomedicine Online
16:
504–513.
|
|
|
Simoni M,
Bakker E and
Krausz C
(2004)
EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions. State of the art 2004.
International Journal of Andrology
27:
240–249.
|
|
|
Tüttelmann F,
Rajpert-De Meyts E,
Nieschlag E and
Simoni M
(2007)
Gene polymorphisms and male infertility – a meta-analysis and literature review.
Reproductive Biomedicine Online
15:
643–658.
|
| Web Links |
|
|
ePath
MSY breakpoint mapper of the Y chromosome
http://jura.wi.mit.edu/page/Y_STS/
|
|
|
ePath
The Androgen Receptor Gene Mutations Database World Wide Web Server (web:
http://www.mcgill.ca/androgendb).
|
