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The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes
The male-specific region of the Y chromosome, the MSY, differentiates the sexes and comprises 95% of the chromosome's length. Here, we report that the MSY is a mosaic of heterochromatic sequences andExpand
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Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection
Many human Y-chromosomal deletions are thought to severely impair reproductive fitness, which precludes their transmission to the next generation and thus ensures their rarity in the population. HereExpand
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Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene
We have detected deletions of portions of the Y chromosome long arm in 12 of 89 men with azoospermia (no spermatozoa in their semen). No Y deletions were detected in their male relatives or in 90Expand
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Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA–binding protein gene
We have detected deletions of portions of the Y chromosome long arm in 12 of 89 men with azoospermia (no sperm in semen). No Y deletions were detected in their male relatives or in 90 other fertileExpand
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Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators
The human X and Y chromosomes evolved from an ordinary pair of autosomes, but millions of years ago genetic decay ravaged the Y chromosome, and only three per cent of its ancestral genes survived. WeExpand
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A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators.
Deletion of the distal short arm of chromosome 9 (9p) has been reported in a number of cases to be associated with gonadal dysgenesis and XY sex reversal, suggesting that this region contains one orExpand
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High mutation rates have driven extensive structural polymorphism among human Y chromosomes
Although much structural polymorphism in the human genome has been catalogued, the kinetics of underlying change remain largely unexplored. Because human Y chromosomes are clonally inherited, it hasExpand
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The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men
Deletions of the AZFc (azoospermia factor c) region of the Y chromosome are the most common known cause of spermatogenic failure. We determined the complete nucleotide sequence of AZFc by identifyingExpand
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The sex-determining region of the human Y chromosome encodes a finger protein
The presence or absence of the Y chromosome determines whether a mammalian embryo develops as a male or female. In humans, genetic deletion analysis of "sex-reversed" individuals has identified aExpand
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The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned
It is widely believed that most or all Y–chromosomal genes were once shared with the X chromosome. The DAZ gene is a candidate for the human Y–chromosomal Azoospermia Factor (AZF). We report multipleExpand
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