ArticleHuman molecular genetics2007
Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y.
Article in Human molecular genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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52 citing papers in PubMed, 164 citations in OpenAlex.
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- Multiple origins and phenotypic implications of an extended human pseudoautosomal region shown by analysis of the UK Biobank.American journal of human genetics · 2025Article
- Automated High-Throughput Biological Sex Identification from Archeological Human Dental Enamel Using Targeted Proteomics.Journal of proteome research · 2024Article
- Integration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y chromosome segment lengths in phenotypic males with 46,XX testicular disorder/difference of sex development.Biology of sex differences · 2024Article
- Promoter hypermethylation of Y-chromosome geneEpigenomics · 2024Article
- Tell me y: anticipation of sex discrepancies in cell-free DNA testing due to maternal genetic abnormalities: a case report.Frontiers in genetics · 2024Article
- Privacy and ethical challenges of the Amelogenin sex test in forensic paternity/kinship analysis: Insights from a 13-year case history.Forensic science international. Synergy · 2023Article
- A novel mutation at the AMEL primer binding region on the Y chromosome in AMELY negative male.International journal of legal medicine · 2022Article
- Comprehensive copy number analysis of Y chromosome-linked loci for detection of structural variations and diagnosis of male infertility.Journal of human genetics · 2022Article
- Repetitive DNA Sequences in the Human Y Chromosome and Male Infertility.Frontiers in cell and developmental biology · 2022Review
- The Y chromosome and its use in forensic DNA analysis.Emerging topics in life sciences · 2021Article
- Alternatives to amelogenin markers for sex determination in humans and their forensic relevance.Molecular biology reports · 2020Review
- Review
- TBL1Y: a new gene involved in syndromic hearing loss.European journal of human genetics : EJHG · 2019Article
- A strategic research alliance: Turner syndrome and sex differences.American journal of medical genetics. Part C, Seminars in medical genetics · 2019Review
- Genetics of the human Y chromosome and its association with male infertility.Reproductive biology and endocrinology : RB&E · 2018Review
- Human Y-chromosome variation in the genome-sequencing era.Nature reviews. Genetics · 2017Review
- Human Y chromosome copy number variation in the next generation sequencing era and beyond.Human genetics · 2017Review
- The Y chromosomes of the great apes.Human genetics · 2017Review
- Great ape Y Chromosome and mitochondrial DNA phylogenies reflect subspecies structure and patterns of mating and dispersal.Genome research · 2016Article
Corrections and comments
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Authors and funding
19 authors at 7 institutions in 4 countries.
Funding
Abstract
Structural polymorphism is increasingly recognized as a major form of human genome variation, and is particularly prevalent on the Y chromosome. Assay of the Amelogenin Y gene (AMELY) on Yp is widely used in DNA-based sex testing, and sometimes reveals males who have interstitial deletions. In a collection of 45 deletion males from 12 populations, we used a combination of sequence-tagged site mapping, and binary-marker and Y-short tandem repeat haplotyping to understand the structural basis of this variation. Of the 45 deletion males, 41 carry indistinguishable deletions, 3.0-3.8 Mb in size. Breakpoint mapping strongly implicates a mechanism of non-allelic homologous recombination between the proximal major array of TSPY gene-containing repeats, and a single distal copy of TSPY; this is supported by the estimation of TSPY copy number in deleted and non-deleted males. The remaining four males carry three distinct non-recurrent deletions (2.5-4.0 Mb), which may be due to non-homologous mechanisms. Haplotyping shows that TSPY-mediated deletions have arisen seven times independently in the sample. One instance, represented by 30 chromosomes mostly of Indian origin within haplogroup J2e1*/M241, has a time-to-most-recent-common-ancestor of approximately 7700+/-1300 years. In addition to AMELY, deletion males all lack the genes PRKY and TBL1Y, and the rarer deletion classes also lack PCDH11Y. The persistence and expansion of deletion lineages, together with direct phenotypic evidence, suggests that absence of these genes has no major deleterious effects.
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