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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, and is a mosaic of heterochromatic sequences and three classes of euchromatics sequences: X-transposed, X-degenerate and ampliconic.
Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA–binding protein gene
The region contains a single–copy gene, DAZ (Deleted in AZoospermia), which is transcribed in the adult testis and appears to encode an RNA binding protein, and the possibility that DAZ is AZF should now be explored.
The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men
The complete nucleotide sequence of AZFc was determined by identifying and distinguishing between near-identical amplicons (massive repeat units) using an iterative mapping–sequencing process.
Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators
It is proposed that beyond its roles in testis determination and spermatogenesis, the Y chromosome is essential for male viability, and has unappreciated roles in Turner’s syndrome and in phenotypic differences between the sexes in health and disease.
A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators.
It is shown by fluorescence in situ hybridization analysis that both genes are deleted in the smallest reported sex-reversing 9p deletion, suggesting that gonadal dysgenesis in 9p-deleted individuals might be due to combined hemizygosity of D MRT1 and DMRT2.
The sex-determining region of the human Y chromosome encodes a finger protein
High mutation rates have driven extensive structural polymorphism among human Y chromosomes
High mutation rates have driven extensive structural polymorphism among human Y chromosomes and limited variation in the copy number of Y-linked genes is found, which raises the possibility of selective constraints.
The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned
Sequence analysis indicates that the Y–chromosomal DAZ cluster arose during primate evolution by transposing the autosomal gene to the Y, amplifying and pruning exons within the transposed gene and amplifying the modified gene.
Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI.
42 infertile men with a Y chromosome microdeletion strictly confined to the AZFc region are fully characterized, will most likely have useable sperm, will have stable sperm production over time and will have a good chance to experience biological paternity.