2012
DOI: 10.1038/aja.2012.55
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Deletion or underexpression of the Y-chromosome genes CDY2 and HSFY is associated with maturation arrest in American men with nonobstructive azoospermia

Abstract: Maturation arrest (MA) refers to failure of germ cell development leading to clinical nonobstructive azoospermia. Although the azoospermic factor (AZF) region of the human Y chromosome is clearly implicated in some cases, thus far very little is known about which individual Y-chromosome genes are important for complete male germ cell development. We sought to identify single genes on the Y chromosome that may be implicated in the pathogenesis of nonobstructive azoospermia associated with MA in the American pop… Show more

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Cited by 30 publications
(28 citation statements)
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“…These have testisspecific expression and contribute in the spermatocyte maturation (Kichine et al, 2012). Deletion or under expression of HSFY is associated with testicular maturation arrest (Shinka et al, 2004;Stahl et al, 2012). However, our case with AZFb deletion (Y:20747116-20896603) is also reported with normal control male (Redon et al, 2006), hence not included as underlying aetiological factor.…”
Section: Discussionmentioning
confidence: 68%
See 1 more Smart Citation
“…These have testisspecific expression and contribute in the spermatocyte maturation (Kichine et al, 2012). Deletion or under expression of HSFY is associated with testicular maturation arrest (Shinka et al, 2004;Stahl et al, 2012). However, our case with AZFb deletion (Y:20747116-20896603) is also reported with normal control male (Redon et al, 2006), hence not included as underlying aetiological factor.…”
Section: Discussionmentioning
confidence: 68%
“…Furthermore, dcY with longer inter-centromeric distances would rely more heavily on functional inactivation of one centromere to achieve mitotic stability, while those with shorter inter-centromeric distance would be less dependent on this mechanism (Lange et al, 2009). Deletion or under expression of HSFY is associated with testicular maturation arrest (Shinka et al, 2004;Stahl et al, 2012). The reason for maturation arrest (early maturation arrest; at primary spermatocyte stage) in this case seems mainly because of CNVs of PARs (PAR 1 and 2) as well as gain in AZF.…”
Section: Discussionmentioning
confidence: 99%
“…In another study, Kinoshita et al [10] suggested that HSFY is candidate for azoospermic factor on the human Y chromosome due to predominant expression in round spermatids. Stahl et al [11] did expression analysis of ten candidate genes located microdeletion region by quantitative RT-PCR in testicular tissue. They suggested CDYZ and HSFY expression could be implicated in the pathogenesis of maturation arrest.…”
Section: Discussionmentioning
confidence: 99%
“…And it remains one of the main aetiologies for male infertility (Plaseska‐Karanfilska et al ., ). According to classical aetiology and pathogenesis of azoospermia, approximately 60% of azoospermic men are afflicted with non‐obstructive cause, namely impairment of spermatogenesis, including Sertoli cell‐only (SCO), maturation arrest (MA) and hypospermatogenesis (HS) in testicular biopsies (Gat et al ., ; Morin‐Papunen & Koivunen, ; Stahl et al ., ). And the other 40% are belonged to obstructive azoospermia.…”
Section: Introductionmentioning
confidence: 97%