A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region

Repping, Sjoerd; Daalen, Saskia K.M. van; Korver, Cindy M.; Brown, Laura G.; Marszalek, Janet D.; Gianotten, Judith; Oates, Robert D.; Silber, Sherman J.; Veen, Fulco van der; Page, David C.; Rozen, Steve

doi:10.1016/j.ygeno.2003.12.018

Cited by 185 publications

(247 citation statements)

References 21 publications

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“…26 The inefficiency of purifying selection coupled with frequent, recurrent mutations has likely allowed many deleterious mutations to reach high frequency in humans. 25,27 However, most of the Y chromosome is nonrecombining; thus, the effects of purifying selection acting anywhere on the Y chromosome will be magnified, because all linked neutral variation will also be removed. 22 As such, the actual diversity may be lower than expected given the Y-specific mutation rate.…”

Section: Resultsmentioning

confidence: 99%

The ‘extremely ancient’ chromosome that isn’t: a forensic bioinformatic investigation of Albert Perry’s X-degenerate portion of the Y chromosome

Elhaik

Tatarinova

Klyosov³

et al. 2014

Eur J Hum Genet

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Mendez and colleagues reported the identification of a Y chromosome haplotype (the A00 lineage) that lies at the basal position of the Y chromosome phylogenetic tree. Incorporating this haplotype, the authors estimated the time to the most recent common ancestor (TMRCA) for the Y tree to be 338 000 years ago (95% CI ¼ 237 000-581 000). Such an extraordinarily early estimate contradicts all previous estimates in the literature and is over a 100 000 years older than the earliest fossils of anatomically modern humans. This estimate raises two astonishing possibilities, either the novel Y chromosome was inherited after ancestral humans interbred with another species, or anatomically modern Homo sapiens emerged earlier than previously estimated and quickly became subdivided into genetically differentiated subpopulations. We demonstrate that the TMRCA estimate was reached through inadequate statistical and analytical methods, each of which contributed to its inflation. We show that the authors ignored previously inferred Y-specific rates of substitution, incorrectly derived the Y-specific substitution rate from autosomal mutation rates, and compared unequal lengths of the novel Y chromosome with the previously recognized basal lineage. Our analysis indicates that the A00 lineage was derived from all the other lineages 208 300 (95% CI ¼ 163 900-260 200) years ago.

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Section: Resultsmentioning

confidence: 99%

The ‘extremely ancient’ chromosome that isn’t: a forensic bioinformatic investigation of Albert Perry’s X-degenerate portion of the Y chromosome

Elhaik

Tatarinova

Klyosov³

et al. 2014

Eur J Hum Genet

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“…However, the prevalence of the b1/b3 deletion in the human population is very low and its frequency varies, with only 18 deletions published to date [65]. Its effect on spermatogenesis is unknown [66]. The b2/ b3 deletion removes 1.8 Mb of AZFc or DAZ3/DAZ4 genes and was detected only in men with spermatogenic failure [65].…”

Section: The Azfb (P5/proximal-p1) Regionmentioning

confidence: 99%

“…The b2/ b3 deletion removes 1.8 Mb of AZFc or DAZ3/DAZ4 genes and was detected only in men with spermatogenic failure [65]. The gr/gr deletion [67,68] removes half of the AZFc region including two copies of the DAZ gene family (DAZ1/DAZ2), one copy of the CDY1 gene family (CDY1a) and one copy of the BPY2 gene [66]. The gr/gr deletion event occurs with a relatively high frequency (3.5 %) in different Y haplotypes among men with spermatogenic failure [66].…”

Section: The Azfb (P5/proximal-p1) Regionmentioning

confidence: 99%

“…The gr/gr deletion [67,68] removes half of the AZFc region including two copies of the DAZ gene family (DAZ1/DAZ2), one copy of the CDY1 gene family (CDY1a) and one copy of the BPY2 gene [66]. The gr/gr deletion event occurs with a relatively high frequency (3.5 %) in different Y haplotypes among men with spermatogenic failure [66]. It varies from 2.1 to 12.5 % among all cases, and from 0 to 10.2 % among normozoospermic controls [69].…”

Section: The Azfb (P5/proximal-p1) Regionmentioning

confidence: 99%

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A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART)

Tahmasbpour

Balasubramanian

Agarwal

2014

J Assist Reprod Genet

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Background The assisted reproductive techniques aimed to assist infertile couples have their own offspring carry significant risks of passing on molecular defects to next generations. Results Novel breakthroughs in gene and protein interactions have been achieved in the field of male infertility using genome-wide proteomics and transcriptomics technologies. Conclusion Male Infertility is a complex and multifactorial disorder.Significance This review provides a comprehensive, up-todate evaluation of the multifactorial factors involved in male infertility. These factors need to be first assessed and understood before we can successfully treat male infertility.

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“…The human Y chromosome, which contains long, Y-specific repeats, is particularly susceptible to rearrangements such as deletions or duplication events generated by homologous recombination [1][2][3][4][5]. The interest of detecting Y chromosome rearrangements is becoming more and more important since the correlation between male infertility and Y chromosome microdeletions has been proved.…”

Section: Introductionmentioning

confidence: 99%

Quantitative PCR technique for the identification of microrearrangements of the AZFc region

Rozé¹,

Bresson²,

Fellmann³

2007

J Assist Reprod Genet

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Purpose: The AZFc region spans about 3.5 Mb and contains many amplicons causing recombination events. Several papers have reported the occurrence of AZFc partial deletions resulting from non allelic homologous recombination (NAHR) ("gr-gr", "b1-b3" or "b2-b3" deletions), particularly in infertile patients. DAZ genes are present in 4 copies and rearrangements involve a modification of the number of DAZ genes.Methods: In addition to STS plus/minus PCR, we developed a quantitative technique using real time PCR (Q-PCR) to determine the number of DAZ genes. Fourteen DNA controls were selected to validate the use of Q-PCR to detect AZFc microrearrangements, and sperm DNA samples from 30 fertile men were studied.Results: Rearrangements of 14 controls were well identified with Q-PCR, and 2 AZFc partial deletions were detected in fertile men (1 "gr-gr" and 1 "b2-b3").Conclusion: Q-PCR represents a well-adapted method to detect microrearrangements of the Y-chromosome, complementary to STS analysis.V. Rozé ( ) EA MENRT 3185 Génétique et Reproduction -IFR133 IBCT,

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A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region

Cited by 185 publications

References 21 publications

The ‘extremely ancient’ chromosome that isn’t: a forensic bioinformatic investigation of Albert Perry’s X-degenerate portion of the Y chromosome

The ‘extremely ancient’ chromosome that isn’t: a forensic bioinformatic investigation of Albert Perry’s X-degenerate portion of the Y chromosome

A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART)

Quantitative PCR technique for the identification of microrearrangements of the AZFc region

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