title: AZFc region of the Y chromosome shows singular structural organization.
abstract: Owing to clonal inheritance, haploid status and lack of recombination, structural polymorphism in the human Y chromosome is more prevalent than that in the remaining parts of the genome. We studied structural organization of the AZFc region, assessed microdeletions therein and studied copy number variation (CNV) of several candidate genes in 750 Indian males. FISH mapping of 13 Y-specific BAC/cosmid clones uncovered a hitherto unreported AZFc configuration showing inter-DAZ gene sequence onto the Yp instead of Yq region. Such inter-DAZ gene arrangements were also detected in five German males (European Y). In 40-50% males, partial u3 and one of the green amplicons, g1, g2 or g3 was present on the Yp in addition to Yq, suggesting an alteration in the IR3 region. Among other AZFc candidates, complete TTY3 and partial CDY1 BAC sequences were detected on the proximal 5p and distal 15q regions, respectively, in both the sexes. However, primers deduced from these clones showed male specific amplification of TTY3 and CDY1 exons suggesting (re)organization of their flanking sequences between Y and autosomes. Importantly, approximately 5% males showed CNV of various Y-linked genes, and approximately 3%, random microdeletions across the AZF region. Present study demonstrates hitherto unreported singular structural organization with respect to DAZ, TTY3 and CDY1 genes highlighting organizational complexities of the human Y chromosome in the global context.
authors.affiliation: Molecular Genetics Laboratory, National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi, 110 067, India.
authors.forename: Sanjay
authors.initials: S
authors.lastname: Premi
authors.forename: Jyoti
authors.initials: J
authors.lastname: Srivastava
authors.forename: Jörg Thomas
authors.initials: JT
authors.lastname: Epplen
authors.forename: Sher
authors.initials: S
authors.lastname: Ali
mesh_terms: D002874:Chromosome Mapping / Q000379:methods*; D041322:Chromosomes, Human, Y; D000075364:Deleted in Azoospermia 1 Protein; D005260:Female; D056426:Genetic Loci; D005858:Germany; D006801:Humans; D007194:India; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics; D029589:Seminal Plasma Proteins / Q000235:genetics*; D044465:White People
chemical_list: C118459:CDY1 protein, human; C095668:DAZ1 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D009687:Nuclear Proteins; D016601:RNA-Binding Proteins; D029589:Seminal Plasma Proteins