Evidence map›Paper›PMID 12566394›Full record

ArticleGenome research2003

Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10p.

Jane Guy, Tom Hearn, Moira Crosier, Jonathan Mudge, Luigi Viggiano, Dirk Koczan, Hans-Jurgen Thiesen, Jeffrey A Bailey, Julie E Horvath, Evan E Eichler and 6 more

Open access · bronzeAbstract readComparative Study
In one paragraph

Article in Genome research, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
–field-weighted citation impact
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

25 citing papers in PubMed, 65 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Gene-based analysis identified the gene ZNF248 is associated with late-onset asthma in African Americans.Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology · 2016
    Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  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

16 authors at 2 institutions in 4 countries.

Jane GuyThe Institute of Human Genetics, The International Centre for Life, University of Newcastle upon Tyne, Newcastle upon Tyne NE1 3BZ, UK.
Tom Hearn
Moira Crosier
Jonathan Mudge
Luigi Viggiano
Dirk Koczan
Hans-Jurgen Thiesen
Jeffrey A Bailey
Julie E Horvath
Evan E Eichler
Mark E Earthrowl
Panos Deloukas
Lisa French
Jane Rogers
David Bentley
Michael S Jackson
Centre for Life · GBWellcome Sanger Institute · GB

Funding

MEDICAL SCIENTIST TRAINING PROGRAMT32GM007250 · NIGMS · CASE WESTERN RESERVE UNIVERSITY · PI HUANG, ALEX YEE-CHEN · 1985 to 2023
$33.4M
NIGMS NIH HHS T32 GM007250Wellcome Trust
6 · The paper itself

Abstract

Contiguous finished sequence from highly duplicated pericentromeric regions of human chromosomes is needed if we are to understand the role of pericentromeric instability in disease, and in gene and karyotype evolution. Here, we have constructed a BAC contig spanning the transition from pericentromeric satellites to genes on the short arm of human chromosome 10, and used this to generate 1.4 Mb of finished genomic sequence. Combining RT-PCR, in silico gene prediction, and paralogy analysis, we can identify two domains within the sequence. The proximal 600 kb consists of satellite-rich pericentromerically duplicated DNA which is transcript poor, containing only three unspliced transcripts. In contrast, the distal 850 kb contains four known genes (ZNF248, ZNF25, ZNF33A, and ZNF37A) and up to 32 additional transcripts of unknown function. This distal region also contains seven out of the eight intrachromosomal duplications within the sequence, including the p arm copy of the approximately 250-kb duplication which gave rise to ZNF33A and ZNF33B. By sequencing orthologs of the duplicated ZNF33 genes we have established that ZNF33A has diverged significantly at residues critical for DNA binding but ZNF33B has not, indicating that ZNF33B has remained constrained by selection for ancestral gene function. These results provide further evidence of gene formation within intrachromosomal duplications, but indicate that recent interchromosomal duplications at this centromere have involved transcriptionally inert, satellite rich DNA, which is likely to be heterochromatic. This suggests that any novel gene structures formed by these interchromosomal events would require relocation to a more open chromatin environment to be expressed.

Indexed as

Amino Acid SequenceAnimalsCallithrixCentromereChromosomes, Human, Pair 10Chromosomes, Human, Pair 7Contig MappingDNA, SatelliteDolphinsEvolution, MolecularGene DuplicationGene Expression ProfilingGenesHumansLorisidaeMolecular Sequence DataCIC protein, humanDNA, SatelliteRepressor Proteins

Identifiers

PMID12566394
PMCPMC420363
OpenAlexW2163617984

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.