ArticleHuman mutation2008
Dynamic nature of the proximal AZFc region of the human Y chromosome: multiple independent deletion and duplication events revealed by microsatellite analysis.
Article in Human mutation, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 65 citations in OpenAlex.
- A comprehensive analysis of Y-chromosomal diversity in Colombian populations.International journal of legal medicine · 2026Article
- The Contribution of Massively Parallel Sequencing in Disclosing Unusual Tri- and Tetra-Allelic Type Patterns Detected at the Multicopy Loci DYS385a/b and DYF387S1.International journal of molecular sciences · 2026Article
- Multiple origins and phenotypic implications of an extended human pseudoautosomal region shown by analysis of the UK Biobank.American journal of human genetics · 2025Article
- Article
- High incidence of AZF duplications in clan-structured Iranian populations detected through Y chromosome sequencing read depth analysis.Scientific reports · 2023Article
- The Y chromosome and its use in forensic DNA analysis.Emerging topics in life sciences · 2021Article
- Forensic features and genetic legacy of the Baloch population of Pakistan and the Hazara population across Durand line revealed by Y-chromosomal STRs.International journal of legal medicine · 2021Article
- Human AZFb deletions cause distinct testicular pathologies depending on their extensions in Yq11 and the Y haplogroup: new cases and review of literature.Cell & bioscience · 2021Review
- Sequence Read Depth Analysis of a Monophyletic Cluster of Y Chromosomes Characterized by Structural Rearrangements in the AZFc Region Resulting in DYS448 Deletion and DYF387S1 Duplication.Frontiers in genetics · 2021Article
- Partial-AZFc deletions in Chilean men with primary spermatogenic impairment: gene dosage and Y-chromosome haplogroups.Journal of assisted reproduction and genetics · 2020Article
- Deletion of b1/b3 shows risk for expanse of Yq microdeletion in male offspring: Case report of novel Y chromosome variations.Medicine · 2020Article
- Haplotypic diversity and population genetic study of a population in Kashi region by 27 Y-chromosomal short tandem repeat loci.Molecular genetics & genomic medicine · 2020Article
- Spermatogenic failure and the Y chromosome.Human genetics · 2017Review
- Y chromosome palindromes and gene conversion.Human genetics · 2017Review
- Population genetics of 23 Y-STR loci in the Mongolian minority population in Inner Mongolia of China.International journal of legal medicine · 2016Article
- Phylogenetic and forensic studies of the Bangladeshi population using next-generation PowerPlex® Y23 STR marker system.International journal of legal medicine · 2016Article
- Analysis of genetic admixture in Uyghur using the 26 Y-STR loci system.Scientific reports · 2016Article
- Copy number variation in the human Y chromosome in the UK population.Human genetics · 2015Article
- Deletion and duplication at DYS448 and DYS626 loci: unexpected patterns within the AZFc region of the Y-chromosome.International journal of legal medicine · 2015Article
- The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades.Molecular biology and evolution · 2015Article
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Authors and funding
13 authors at 7 institutions in 4 countries.
Funding
Abstract
The human Y chromosome shows frequent structural variants, some of which are selectively neutral, while others cause impaired fertility due to the loss of spermatogenic genes. The large-scale use of multiple Y-chromosomal microsatellites in forensic and population genetic studies can reveal such variants, through the absence or duplication of specific markers in haplotypes. We describe Y chromosomes in apparently normal males carrying null and duplicated alleles at the microsatellite DYS448, which lies in the proximal part of the azoospermia factor c (AZFc) region, important in spermatogenesis, and made up of "ampliconic" repeats that act as substrates for nonallelic homologous recombination (NAHR). Physical mapping in 26 DYS448 deletion chromosomes reveals that only three cases belong to a previously described class, representing independent occurrences of an approximately 1.5-Mb deletion mediated by recombination between the b1 and b3 repeat units. The remainder belong to five novel classes; none appears to be mediated through homologous recombination, and all remove some genes, but are likely to be compatible with normal fertility. A combination of deletion analysis with binary-marker and microsatellite haplotyping shows that the 26 deletions represent nine independent events. Nine DYS448 duplication chromosomes can be explained by four independent events. Some lineages have risen to high frequency in particular populations, in particular a deletion within haplogroup (hg) C(*)(xC3a,C3c) found in 18 Asian males. The nonrandom phylogenetic distribution of duplication and deletion events suggests possible structural predisposition to such mutations in hgs C and G.
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