ENU mutagenesis in mice identifies candidate genes for hypogonadism

Mammalian Genome

Volumn 23, Issue 5-6, 2012, Pages 346-355

  Weiss, Jeffrey ^a,d   Hurley, Lisa A ^a   Harris, Rebecca M ^a   Finlayson, Courtney ^a   Tong, Minghan ^a   Fisher, Lisa A ^a   Moran, Jennifer L ^b   Beier, David R ^b   Mason, Christopher ^c   Jameson, J Larry ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c WEILL CORNELL MEDICAL COLLEGE   (United States)

^d NORTHWESTERN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ETHYLNITROSOUREA; PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BICC1 GENE; CELL LOSS; CONTROLLED STUDY; EXON; GENE; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GERM CELL; HETEROZYGOSITY; HOMOZYGOSITY; HYPOGONADISM; MALE; MALE INFERTILITY; MOUSE; MUTAGENESIS; MUTATIONAL ANALYSIS; MYO5A GENE; NONHUMAN; PHENOTYPE; PLK4 GENE; PMP22 GENE; PRDM9 GENE; RXFP2 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SNRPE GENE; SPERMATOGENESIS; ANIMAL; C57BL MOUSE; GENETICS; HUMAN; ANIMAL CELL; CHROMOSOME ANALYSIS; CRYPTORCHISM; DISEASE SEVERITY; FEMALE; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC SCREENING; GENETIC VARIABILITY; GENOMICS; GERM CELL DEFICIENCY; GONAD FUNCTION; GROWTH RETARDATION; HERITABILITY; HYDROCEPHALUS; KIDNEY POLYCYSTIC DISEASE; MALE GENITAL SYSTEM; MALE GENITAL SYSTEM DISEASE; TESTIS SIZE; TREMOR; UROGENITAL SYSTEM;

MUS;

ANIMALS; ETHYLNITROSOUREA; HUMANS; HYPOGONADISM; INFERTILITY, MALE; MALE; MICE; MICE, INBRED C57BL; MUTAGENESIS; PROTEINS;

EID: 84862591061     PISSN: 09388990     EISSN: 14321777     Source Type: Journal    
DOI: 10.1007/s00335-011-9388-5     Document Type: Article

References (43)

1. Acevedo-Arozena A et al (2008) ENU mutagenesis, a way forward to understand gene function. Annu Rev Genomics Hum Genet 9:49-69
2. Bannister LA et al (2007) A dominant, recombination-defective allele of Dmc1 causing male-specific sterility. PLoS Biol 5:e105
3. Baudat F et al (2010) PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice. Science 327:836-840
4. Boles MK et al (2009) Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin. PLoS Genet 5:e1000759
5. Brugh VM III, Lipschultz LI (2004) Male factor infertility: evaluation and management. Med Clin North Am 88:367-385
6. Ching YH et al (2010a) High resolution mapping and positional cloning of ENU-induced mutations in the Rw region of mouse chromosome 5. BMC Genet 11:106
7. Ching YH et al (2010b) An allele separating skeletal patterning and spermatogonial renewal functions of PLZF. BMC Dev Biol 10:33
8. Church DM et al (2009) Lineage-specific biology revealed by a finished genome assembly of the mouse. PLoS Biol 7:e1000112
9. Clark AT et al (2004) Implementing large-scale ENU mutagenesis screens in North America. Genetica 122:51-64
10. Debruyne JP et al (2006) A clock shock: mouse CLOCK is not required for circadian oscillator function. Neuron 50:465-477
11. Durbin RM et al (2010) A map of human genome variation from population-scale sequencing. Nature 467:1061-1073
12. Fautsch MP et al (1992) Conservation of coding and transcriptional control sequences within the snRNP E protein gene. Genomics 14:883-890
13. Ferlin A et al (2003) The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidism. J Clin Endocrinol Metab 88:4273-4279
14. Foresta C et al (2002) Guidelines for the appropriate use of genetic tests in infertile couples. Eur J Hum Genet 10:303-312
15. Furnes B, Schimenti J (2007) Fast forward to new genes in mammalian reproduction. J Physiol 578:25-32
16. Guenet JL (2004) Chemical mutagenesis of the mouse genome: an overview. Genetica 122:9-24
17. Handel MA et al (2006) Mutagenesis as an unbiased approach to identify novel contraceptive targets. Mol Cell Endocrinol 250:201-205
18. Harris T et al (2007) Sperm motility defects and infertility in male mice with a mutation in Nsun7, a member of the Sun domain-containing family of putative RNA methyltransferases. Biol Reprod 77:376-382
19. Harris RM et al (2010) A missense mutation in LRR8 of RXFP2 is associated with cryptorchidism. Mamm Genome 21:442-449
20. Harris RM et al (2011) Male hypogonadism and germ cell loss caused by a mutation in Polo-like kinase 4. Endocrinology 152:3975-3985
21. Hayashi K et al (2005) A histone H3 methyltransferase controls epigenetic events required for meiotic prophase. Nature 438:374-378
22. Irvine DS (1998) Epidemiology and aetiology of male infertility. Hum Reprod 13(Suppl 1):33-44
23. Jongeneel CV et al (2005) An atlas of human gene expression from massively parallel signature sequencing (MPSS). Genome Res 15:1007-1014
24. Justice MJ et al (1999) Mouse ENU mutagenesis. Hum Mol Genet 8:1955-1963
25. Kennedy CL, O'Bryan MK (2006) N-ethyl-N-nitrosourea (ENU) mutagenesis and male fertility research. Hum Reprod Update 12:293-301
26. Kuroda-Kawaguchi T et al (2001) The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 29:279-286
27. Lander ES et al (2001) Initial sequencing and analysis of the human genome. Nature 409:860-921
28. Matzuk MM et al (2008) The biology of infertility: research advances and clinical challenges. Nat Med 14:1197-1213
29. Mihola O et al (2009) A mouse speciation gene encodes a meiotic histone H3 methyltransferase. Science 323:373-375
30. Moldin SO et al (2001) Trans-NIH neuroscience initiatives on mouse phenotyping and mutagenesis. Mamm Genome 12:575-581
31. Moran JL et al (2006) Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse. Genome Res 16:436-440
32. O'Bryan MK, de Kretser D (2006) Mouse models for genes involved in impaired spermatogenesis. Int J Androl 29:76-89 discussion 105-108
33. O'Flynn O'Brien KL et al (2010) The genetic causes of male factor infertility: a review. Fertil Steril 93:1-12
34. Parvanov ED et al (2010) Prdm9 controls activation of mammalian recombination hotspots. Science 327:835
35. Philipps DL et al (2008) The dual bromodomain and WD repeat-containing mouse protein BRWD1 is required for normal spermiogenesis and the oocyte-embryo transition. Dev Biol 317:72-82
36. Raverot G et al (2005) Sox3 expression in undifferentiated spermatogonia is required for the progression of spermatogenesis. Dev Biol 283:215-225
37. Stanford DR et al (1988) The complete primary structure of the human snRNP E protein. Nucleic Acids Res 16:10593-10605
38. Tyler-Smith C et al (2009) The will-o'-the-wisp of genetics-hunting for the azoospermia factor gene. N Engl J Med 360:925-927
39. Venter JC et al (2001) The sequence of the human genome. Science 291:1304-1351
40. Vitaterna MH et al (1994) Mutagenesis and mapping of a mouse gene, Clock, essential for circadian behavior. Science 264:719-725
41. Vitaterna MH et al (2006) Large-scale mutagenesis and phenotypic screens for the nervous system and behavior in mice. Trends Neurosci 29:233-240
42. Ward JO et al (2007) Mutation in mouse hei10, an e3 ubiquitin ligase, disrupts meiotic crossing over. PLoS Genet 3:e139
43. Waterston RH et al (2002) Initial sequencing and comparative analysis of the mouse genome. Nature 420:520-562