Do microdeletions in the AZF region of the Y chromosome accompany cryptorchidism in Turkish children?

Gürbüz, Necati; Özbay, Bedi; Aras, Bekir; Taşçı, Ali İhsan

doi:10.1007/s11255-007-9318-3

Cited by 4 publications

(5 citation statements)

References 41 publications

(57 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Similar varying results have been reported in studies of trinucleotide repeat number in exon 1 of the androgen receptor, although more recent work suggests a possible association with cryptorchidism [20]. Microdeletions of the Y chromosome have also been studied in infertile men with and without a history of cryptorchidism, and no consistent association observed (reviewed in [30]). …”

Section: Candidate Gene Mutations In Human Cryptorchidismsupporting

confidence: 55%

Undescended testis: current theories of etiology

Barthold

2008

Current Opinion in Urology

View full text Add to dashboard Cite

show abstract

Section: Candidate Gene Mutations In Human Cryptorchidismsupporting

confidence: 55%

Undescended testis: current theories of etiology

Barthold

2008

Current Opinion in Urology

View full text Add to dashboard Cite

show abstract

“…A few studies have focused on Υq11-md specifically in patients with TMD (Cortes et al, 1998;Fagerli et al, 1999;Foresta et al, 1999;Dada et al, 2002b;Suzuki et al, 2002;Kunej et al, 2003;Castro et al, 2004;Ferlin et al, 2004Ferlin et al, , 2005Song et al, 2005;Bor et al, 2006;Giachini et al, 2007;Moretti et al, 2007;Gurbuz et al, 2008). To our knowledge, our study is the largest one published to date (Table 1).…”

Section: Discussionmentioning

confidence: 76%

“…However, it should be noted that this study is not directly comparable to ours in terms of the STS primers used. Finally, Gurbuz et al (2008) in a study of 64 Turkish patients with TMD (and unknown fertility status) no Yq11-md were found. All three AZF regions were screened with the use of 51 STS primers, including those used in our study.…”

Section: Discussionmentioning

confidence: 93%

“…Similarly, in a study of 64 Danish patients with TMD and abnormal or normal semen analysis, no Yq11-md were detected leading the authors to conclude against an association (Bor et al, 2006). Finally, Gurbuz et al (2008) in a study of 64 Turkish patients with TMD (and unknown fertility status) no Yq11-md were found. The authors concluded that Yq11-md and TMD are two different entities that may coexist.…”

Section: Discussionmentioning

confidence: 94%

See 1 more Smart Citation

Screening for Y chromosome microdeletions in childhood: lack of evidence for a direct association with testicular maldescent

et al. 2012

View full text Add to dashboard Cite

The aim of the study was to investigate the hypothesis that Y chromosome microdeletions are directly implicated in testicular maldescent. Genomic DNA was extracted from the peripheral blood of 292 subjects. This population consisted of (i) 180 children with all phenotypes of isolated (non-syndromic) testicular maldescent from 174 index families, (ii) affected adult relatives available (n = 12) and (iii) 100 unrelated children with normal external genitalia (controls). The sequence-tagged site primer set and the conditions of conventional polymerase chain reaction amplification were based on the current laboratory guidelines for molecular diagnosis of Y chromosome microdeletions recommended by the European Academy of Andrology and the European Molecular Genetics Quality Network. Two multiplex reactions were designed to screen the regions of azoospermic factors a, b and c. Each multiplex reaction included adequate internal and external amplification controls. Amplification products were submitted to electrophoresis on 2% agarose gel impregnated with ethidium bromide dye solution for 80 volt-h and visualised under ultraviolet light. No microdeletions were detected in any subject. These results indicate that Y chromosome microdeletions are not directly implicated in the pathogenesis of testicular maldescent. Other factors should be investigated to potentially explain the genetic predisposition that seems to exist in at least a subgroup of these patients.

show abstract

“…The LHCGR has been excluded as a CO candidate gene in an association study in men [71], although KO of this gene in mice showed cryptorchid phenotype (MGI) and is causative gene of Leydig cell hypoplasia-a syndrome that features CO as one of the clinical signs (OMIM). In addition, Y chromosome microdeletions have been found to be present in patients with CO, but are not likely to be a common etiological cause of CO [72-74]. …”

Section: Resultsmentioning

confidence: 99%

Pivotal role of the muscle-contraction pathway in cryptorchidism and evidence for genomic connections with cardiomyopathy pathways in RASopathies

et al. 2013

View full text Add to dashboard Cite

BackgroundCryptorchidism is the most frequent congenital disorder in male children; however the genetic causes of cryptorchidism remain poorly investigated. Comparative integratomics combined with systems biology approach was employed to elucidate genetic factors and molecular pathways underlying testis descent.MethodsLiterature mining was performed to collect genomic loci associated with cryptorchidism in seven mammalian species. Information regarding the collected candidate genes was stored in MySQL relational database. Genomic view of the loci was presented using Flash GViewer web tool (http://gmod.org/wiki/Flashgviewer/). DAVID Bioinformatics Resources 6.7 was used for pathway enrichment analysis. Cytoscape plug-in PiNGO 1.11 was employed for protein-network-based prediction of novel candidate genes. Relevant protein-protein interactions were confirmed and visualized using the STRING database (version 9.0).ResultsThe developed cryptorchidism gene atlas includes 217 candidate loci (genes, regions involved in chromosomal mutations, and copy number variations) identified at the genomic, transcriptomic, and proteomic level. Human orthologs of the collected candidate loci were presented using a genomic map viewer. The cryptorchidism gene atlas is freely available online: http://www.integratomics-time.com/cryptorchidism/. Pathway analysis suggested the presence of twelve enriched pathways associated with the list of 179 literature-derived candidate genes. Additionally, a list of 43 network-predicted novel candidate genes was significantly associated with four enriched pathways. Joint pathway analysis of the collected and predicted candidate genes revealed the pivotal importance of the muscle-contraction pathway in cryptorchidism and evidence for genomic associations with cardiomyopathy pathways in RASopathies.ConclusionsThe developed gene atlas represents an important resource for the scientific community researching genetics of cryptorchidism. The collected data will further facilitate development of novel genetic markers and could be of interest for functional studies in animals and human. The proposed network-based systems biology approach elucidates molecular mechanisms underlying co-presence of cryptorchidism and cardiomyopathy in RASopathies. Such approach could also aid in molecular explanation of co-presence of diverse and apparently unrelated clinical manifestations in other syndromes.

show abstract

Do microdeletions in the AZF region of the Y chromosome accompany cryptorchidism in Turkish children?

Cited by 4 publications

References 41 publications

Undescended testis: current theories of etiology

Undescended testis: current theories of etiology

Screening for Y chromosome microdeletions in childhood: lack of evidence for a direct association with testicular maldescent

Pivotal role of the muscle-contraction pathway in cryptorchidism and evidence for genomic connections with cardiomyopathy pathways in RASopathies

Contact Info

Product

Resources

About