HSFY genes and the P4 palindrome in the AZFb interval of the human Y chromosome are not required for spermatocyte maturation

Kichine, Elsa; Rozé, Virginie; Cristofaro, Julie Di; Taulier, Daniel; Navarro, A.; Streichemberger, Eric; Decarpentrie, Fanny; Metzler‐Guillemain, Catherine; Lévy, Nicolas; Chiaroni, Jacques; Paquis‐Flucklinger, Véronique; Fellmann, Florence; Mitchell, Michael J.

doi:10.1093/humrep/der421

Cited by 30 publications

(27 citation statements)

References 48 publications

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“…31 This unique Y-chromosome microdeletion was detected in 3/1186 infertile men and 0/1179 control men, confirming that HSFY deletions are associated with infertility, but contradicting our findings that HSFY expression is essential for germ cell development. One plausible explanation for the different effects of HSFY loss in different populations is that X-linked or autosomal compensatory mechanisms may exist in some populations that can partially compensate for absence of HSFY.…”

Section: Discussioncontrasting

confidence: 78%

Deletion or underexpression of the Y-chromosome genes CDY2 and HSFY is associated with maturation arrest in American men with nonobstructive azoospermia

Stahl¹,

Mielnik²,

Barbieri³

et al. 2012

Asian J Androl

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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 population. Genotype-phenotype analysis of 132 men with Y-chromosome microdeletions was performed. Protein-coding genes associated with MA were identified by visual analysis of a genotype-phenotype map. Genes associated with MA were selected as those genes within a segment of the Y chromosome that, when completely or partially deleted, were always associated with MA and absence of retrievable testicular sperm. Expression of each identified gene transcript was then measured with quantitative RT-PCR in testicular tissue from separate cohorts of patients with idiopathic MA and obstructive azoospermia. Ten candidate genes for association with MA were identified within an 8.4-Mb segment of the Y chromosome overlapping the AZFb region. CDY2 and HSFY were the only identified genes for which differences in expression were observed between the MA and obstructive azoospermia cohorts. Men with obstructive azoospermia had 12-fold higher relative expression of CDY2 transcript (1.3360.40 vs. 0.1160.04; P50.0003) and 16-fold higher expression of HSFY transcript (0.7860.32 vs. 0.0560.02; P50.0005) compared to men with MA. CDY2 and HSFY were also underexpressed in patients with Sertoli cell only syndrome. These data indicate that CDY2 and HSFY are located within a segment of the Y chromosome that is important for sperm maturation, and are underexpressed in testicular tissue derived from men with MA. These observations suggest that impairments in CDY2 or HSFY expression could be implicated in the pathogenesis of MA.

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Section: Discussioncontrasting

confidence: 78%

Deletion or underexpression of the Y-chromosome genes CDY2 and HSFY is associated with maturation arrest in American men with nonobstructive azoospermia

Stahl¹,

Mielnik²,

Barbieri³

et al. 2012

Asian J Androl

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“…This process may underlie several disease phenotypes in humans including spermatogenesis failure, sex reversal, and Turner syndrome which are associated with inheritance of a rearranged Y and gene loss [78]. Although ectopic recombination does not always lead to reduced male fertility [53, 78, 86, 87], fitness-reducing consequences of ampliconic structure are likely to be frequent enough to impose an upper limit on the number of duplicates that can be maintained in a Y chromosome as a higher number is expected to lead to more ectopic crossovers [88]. Given that palindromes and tandem arrays are fixed in a population and are maintained for long periods of time, the benefits associated with gene duplications must be large enough to offset their deleterious effects.…”

Section: Evolution Of Sex-limited Chromosomesmentioning

confidence: 99%

Why Chromosome Palindromes?

Betrán

Williford

2012

International Journal of Evolutionary Biology

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We look at sex-limited chromosome (Y or W) evolution with particular emphasis on the importance of palindromes. Y chromosome palindromes consist of inverted duplicates that allow for local recombination in an otherwise nonrecombining chromosome. Since palindromes enable intrachromosomal gene conversion that can help eliminate deleterious mutations, they are often highlighted as mechanisms to protect against Y degeneration. However, the adaptive significance of recombination resides in its ability to decouple the evolutionary fates of linked mutations, leading to both a decrease in degeneration rate and an increase in adaptation rate. Our paper emphasizes the latter, that palindromes may exist to accelerate adaptation by increasing the potential targets and fixation rates of incoming beneficial mutations. This hypothesis helps reconcile two enigmatic features of the “palindromes as protectors” view: (1) genes that are not located in palindromes have been retained under purifying selection for tens of millions of years, and (2) under models that only consider deleterious mutations, gene conversion benefits duplicate gene maintenance but not initial fixation. We conclude by looking at ways to test the hypothesis that palindromes enhance the rate of adaptive evolution of Y-linked genes and whether this effect can be extended to palindromes on other chromosomes.

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“…They suggested CDYZ and HSFY expression could be implicated in the pathogenesis of maturation arrest. On the other hand, Kichine et al [12] found that four patients have Y microdeletion, one of them has azoospermia, and the others have oligospermia. They had deletion of proximal and of the AZFb region including HSFY gene.…”

Section: Discussionmentioning

confidence: 99%

Mutation analysis of HSFY gene by DNA sequencing in Turkish men with idiopathic infertility

Semerci¹,

Alataş²,

Sılan³

et al. 2016

Pau Med J

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Purpose: In this study we planned to investigate HSFY gene mutations in Turkish infertile men with azoospermia, oligospermia and/or poor motility/morphology. Materials and methods: From three distinct medical centers, 41 Turkish infertile men contributed to this study. The patients included in the study had no endocrine or obstructive causes of spermatogenic failure and no Y microdeletion, and had normal karyotype. Mutation analysis of the HSFY gene was performed by DNA sequencing. Results: No variant could be detected in coding regions and flanking introns of HSFY gene in the study population. Conclusion: This study suggests no relation of HSFY sequence variant with spermatogenic failure and, the clinical molecular approach to diagnosis of individuals with spermatogenic failure is complicated due to extensive genetic heterogeneity and need more study to reveal causative genes and mutations of idiopathic infertility in men.Pam Med J 2016;9(1):1-4

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HSFY genes and the P4 palindrome in the AZFb interval of the human Y chromosome are not required for spermatocyte maturation

Cited by 30 publications

References 48 publications

Deletion or underexpression of the Y-chromosome genes CDY2 and HSFY is associated with maturation arrest in American men with nonobstructive azoospermia

Deletion or underexpression of the Y-chromosome genes CDY2 and HSFY is associated with maturation arrest in American men with nonobstructive azoospermia

Why Chromosome Palindromes?

Mutation analysis of HSFY gene by DNA sequencing in Turkish men with idiopathic infertility

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