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Array comparative genomic hybridization in male infertility

(2012) HUMAN REPRODUCTION. 27(3). p.921-929
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Abstract
Male infertility caused by a maturation arrest of spermatogenesis is a condition with an abrupt stop in spermatogenesis, mostly at the level of primary spermatocytes. The etiology remains largely unknown. We focused on patients with a complete arrest at the spermatocyte level (n 9) and used array comparative genomic hybridization to screen for deletions or duplications that might be associated with maturation arrest. Interesting copy number variations (CNVs) were further examined by using quantitative PCR. Where appropriate, the expression pattern was analyzed in multiple human tissues including the testis. A total of 227 CNVs were detected in the patient group. After the elimination of CNVs that were also present in the control group or that were not likely to be involved in male infertility, the remaining 11 regions were investigated more in detail. We first determined the expression pattern of seven genes, for which expression had not been reported to be investigated in testicular tissue, after which one region could be eliminated. Next, all 10 promising candidate regions were analyzed by quantitative PCR in a control population. Eight deletions/duplications were absent in our control group, and therefore might be linked with the male infertility in our patients. One of these alterations, however, has been detected in a proven fertile father group. Further research is necessary to determine the relationship between the observed genomic alterations and maturation arrest of spermatogenesis. Furthermore, several of the above genes have not been studied at the functional level and consequently, more research is required to determine their role in spermatogenesis.
Keywords
array CGH, male infertility, IDENTIFICATION, DUPLICATIONS, METAANALYSIS, EXPRESSION, copy number variations, spermatogenic arrest, HOMOZYGOUS MUTATION, X-CHROMOSOME, GENE FAMILY, SPERMATOGENESIS, SPERMATOZOA, SPERM

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Chicago
Stouffs, K, D Vandermaelen, A Massart, Björn Menten, Sarah Vergult, H Tournaye, and W Lissens. 2012. “Array Comparative Genomic Hybridization in Male Infertility.” Human Reproduction 27 (3): 921–929.
APA
Stouffs, K., Vandermaelen, D., Massart, A., Menten, B., Vergult, S., Tournaye, H., & Lissens, W. (2012). Array comparative genomic hybridization in male infertility. HUMAN REPRODUCTION, 27(3), 921–929.
Vancouver
1.
Stouffs K, Vandermaelen D, Massart A, Menten B, Vergult S, Tournaye H, et al. Array comparative genomic hybridization in male infertility. HUMAN REPRODUCTION. 2012;27(3):921–9.
MLA
Stouffs, K, D Vandermaelen, A Massart, et al. “Array Comparative Genomic Hybridization in Male Infertility.” HUMAN REPRODUCTION 27.3 (2012): 921–929. Print.
@article{3122014,
  abstract     = {Male infertility caused by a maturation arrest of spermatogenesis is a condition with an abrupt stop in spermatogenesis, mostly at the level of primary spermatocytes. The etiology remains largely unknown. 
We focused on patients with a complete arrest at the spermatocyte level (n 9) and used array comparative genomic hybridization to screen for deletions or duplications that might be associated with maturation arrest. Interesting copy number variations (CNVs) were further examined by using quantitative PCR. Where appropriate, the expression pattern was analyzed in multiple human tissues including the testis. 
A total of 227 CNVs were detected in the patient group. After the elimination of CNVs that were also present in the control group or that were not likely to be involved in male infertility, the remaining 11 regions were investigated more in detail. We first determined the expression pattern of seven genes, for which expression had not been reported to be investigated in testicular tissue, after which one region could be eliminated. Next, all 10 promising candidate regions were analyzed by quantitative PCR in a control population. 
Eight deletions/duplications were absent in our control group, and therefore might be linked with the male infertility in our patients. One of these alterations, however, has been detected in a proven fertile father group. Further research is necessary to determine the relationship between the observed genomic alterations and maturation arrest of spermatogenesis. Furthermore, several of the above genes have not been studied at the functional level and consequently, more research is required to determine their role in spermatogenesis.},
  author       = {Stouffs, K and Vandermaelen, D and Massart, A and Menten, Björn and Vergult, Sarah and Tournaye, H and Lissens, W},
  issn         = {0268-1161},
  journal      = {HUMAN REPRODUCTION},
  keywords     = {array CGH,male infertility,IDENTIFICATION,DUPLICATIONS,METAANALYSIS,EXPRESSION,copy number variations,spermatogenic arrest,HOMOZYGOUS MUTATION,X-CHROMOSOME,GENE FAMILY,SPERMATOGENESIS,SPERMATOZOA,SPERM},
  language     = {eng},
  number       = {3},
  pages        = {921--929},
  title        = {Array comparative genomic hybridization in male infertility},
  url          = {http://dx.doi.org/10.1093/humrep/der440},
  volume       = {27},
  year         = {2012},
}

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