ArticleHuman genetics2015
Copy number variation in the human Y chromosome in the UK population.
Article in Human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 15 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 27 citations in OpenAlex.
- Detection of AZF microdeletions and analysis of reproductive hormonal profiles in Hainan men undergoing assisted reproductive technology.BMC urology · 2024Article
- A family with normal sperm motility carrying a sY86 deletion in AZFa region and partial deletion in AZFc region.Frontiers in genetics · 2024Article
- Detection of partial and/or complete Y chromosome microdeletions of azoospermia factor a (AZFa) sub-region in infertile Iraqi patients with azoospermia and severe oligozoospermia.Journal of clinical laboratory analysis · 2022Article
- Repetitive DNA Sequences in the Human Y Chromosome and Male Infertility.Frontiers in cell and developmental biology · 2022Review
- Y chromosome copy number variation and its effects on fertility and other health factors: a review.Translational andrology and urology · 2021Review
- Evolutionary and functional analysis of RBMY1 gene copy number variation on the human Y chromosome.Human molecular genetics · 2019Article
- Consequences of Y chromosome microdeletions beyond male infertility.Journal of assisted reproduction and genetics · 2019Review
- Selection Has Countered High Mutability to Preserve the Ancestral Copy Number of Y Chromosome Amplicons in Diverse Human Lineages.American journal of human genetics · 2018Article
- Dynamic Copy Number Evolution of X- and Y-Linked Ampliconic Genes in Human Populations.Genetics · 2018Article
- 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
- Analysis of 62 hybrid assembled human Y chromosomes exposes rapid structural changes and high rates of gene conversion.PLoS genetics · 2017Article
- 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
- Y chromosome polymorphisms may contribute to an increased risk of male-induced unexplained recurrent miscarriage.Bioscience reports · 2017Article
Corrections and comments
- Erratum issuedErratum to: Copy number variation in the human Y chromosome in the UK population.2015 · Fitzgerald, Tomas [corrected to Fitzgerald, Tomas W]; Smith, Blair B [corrected to Smith, Blair H]; Dominiczak, Anna A [corrected to Dominiczak, Anna F]; Morris, Andrew A [corrected to Morris, Andrew D]; Porteous, David D [corrected to Porteous, David J]
Authors and funding
16 authors at 5 institutions in 1 country.
Funding
Abstract
We have assessed copy number variation (CNV) in the male-specific part of the human Y chromosome discovered by array comparative genomic hybridization (array-CGH) in 411 apparently healthy UK males, and validated the findings using SNP genotype intensity data available for 149 of them. After manual curation taking account of the complex duplicated structure of Y-chromosomal sequences, we discovered 22 curated CNV events considered validated or likely, mean 0.93 (range 0-4) per individual. 16 of these were novel. Curated CNV events ranged in size from <1 kb to >3 Mb, and in frequency from 1/411 to 107/411. Of the 24 protein-coding genes or gene families tested, nine showed CNV. These included a large duplication encompassing the AMELY and TBL1Y genes that probably has no phenotypic effect, partial deletions of the TSPY cluster and AZFc region that may influence spermatogenesis, and other variants with unknown functional implications, including abundant variation in the number of RBMY genes and/or pseudogenes, and a novel complex duplication of two segments overlapping the AZFa region and including the 3' end of the UTY gene.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.