Evidence map›Paper›PMID 10205277›Full record

ArticleAmerican journal of human genetics1999

Transmission of a fully functional human neocentromere through three generations.

C Tyler-Smith, G Gimelli, S Giglio, G Floridia, A Pandya, G Terzoli, P E Warburton, W C Earnshaw, O Zuffardi

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.

0numbers the graph read from it
0cells of the map it votes in
50citing papers in PubMed
5.7field-weighted citation impact, top 4% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

50 citing papers in PubMed, 117 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Article
  6. CENP-A Regulation and Cancer.Frontiers in cell and developmental biology · 2022
    Review
  7. Article
  8. Centromere Identity and the Regulation of Chromosome Segregation.Frontiers in cell and developmental biology · 2022
    Review
  9. Article
  10. Article
  11. Review
  12. Article
  13. Review
  14. Review
  15. Article
  16. Review
  17. Review
  18. Article
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  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 5 institutions in 2 countries.

C Tyler-SmithCRC Chromosome Molecular Biology Group, Department of Biochemistry, University of Oxford, Oxford, United Kingdom.
G Gimelli
S Giglio
G Floridia
A Pandya
G Terzoli
P E Warburton
W C Earnshaw
O Zuffardi
University of Edinburgh · GBUniversity of Oxford · GBUniversity of Pavia · ITIRCCS Ospedale San Raffaele · ITIstituto Giannina Gaslini · IT

Funding

Wellcome Trust 073915
6 · The paper itself

Abstract

An unusual Y chromosome with a primary constriction inside the long-arm heterochromatin was found in the amniocytes of a 38-year-old woman. The same Y chromosome was found in her husband and brother-in-law, thus proving that it was already present in the father. FISH with alphoid DNA showed hybridization signals at the usual position of the Y centromere but not at the primary constriction. Centromere proteins (CENP)-A, CENP-C, and CENP-E could not be detected at the site of the canonic centromere but were present at the new constriction, whereas CENP-B was not detected on this Y chromosome. Experiments with 82 Y-specific loci distributed throughout the chromosome confirmed that no gross deletion or rearrangement had taken place, and that the Y chromosome belonged to a haplogroup whose members have a mean alphoid array of 770 kb (range 430-1,600 kb), whereas that of this case was approximately 250 kb. Thus, this Y chromosome appeared to be deleted for part of the alphoid DNA. It seems likely that this deletion was responsible for the silencing of the normal centromere and that the activation of the neocentromere prevented the loss of this chromosome. Alternatively, neocentromere activation could have occurred first and stimulated inactivation of the normal centromere by partial deletion. Whatever the mechanism, the presence of this chromosome in three generations demonstrates that it functions sufficiently well in mitosis for male sex determination and fertility and that neocentromeres can be transmitted normally at meiosis.

Indexed as

Gene DeletionAdultCentromereFemaleHumansIn Situ Hybridization, FluorescenceMaleMiddle AgedY Chromosome

Identifiers

PMID10205277
PMCPMC1377882
OpenAlexW2074392395

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.