Evidence map›Paper›PMID 28783728›Full record

ArticleNature2017

Correction of a pathogenic gene mutation in human embryos.

Hong Ma, Nuria Marti-Gutierrez, Sang-Wook Park, Jun Wu, Yeonmi Lee, Keiichiro Suzuki, Amy Koski, Dongmei Ji, Tomonari Hayama, Riffat Ahmed and 21 more

RetractedOpen access · bronzeAbstract read
PubMed Publisher
In one paragraph

Article in Nature, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It has been retracted, and should not be counted. Cited by 377 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
377citing papers in PubMed, 1 pooled it
66.3field-weighted citation impact, top 1% 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

377 citing papers in PubMed, 1 synthesis or guideline pooled it, 946 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Review
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  7. Review
  8. Review
  9. A NewHuman mutation · 2026
    Article
  10. Review
  11. Review
  12. Article
  13. Review
  14. Review
  15. Review
  16. Review
  17. Genome editing strategies for targeted correction of β-globin mutation in sickle cell disease: From bench to bedside.Molecular therapy : the journal of the American Society of Gene Therapy · 2025
    Review
  18. Article
  19. Article
  20. Review

317 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

31 authors at 5 institutions in 3 countries.

Hong MaCenter for Embryonic Cell and Gene Therapy, Oregon Health &Science University, 3303 Southwest, Bond Avenue, Portland, Oregon 97239, USA.
Nuria Marti-GutierrezCenter for Embryonic Cell and Gene Therapy, Oregon Health &Science University, 3303 Southwest, Bond Avenue, Portland, Oregon 97239, USA.
Sang-Wook ParkCenter for Genome Engineering, Institute for Basic Science, 70, Yuseong-daero 1689-gil, Yuseong-gu, Daejeon, 34047, Republic of Korea.
Jun WuGene Expression Laboratory, Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, California 92037, USA.
Yeonmi LeeCenter for Embryonic Cell and Gene Therapy, Oregon Health &Science University, 3303 Southwest, Bond Avenue, Portland, Oregon 97239, USA.
Keiichiro SuzukiGene Expression Laboratory, Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, California 92037, USA.
Amy KoskiCenter for Embryonic Cell and Gene Therapy, Oregon Health &Science University, 3303 Southwest, Bond Avenue, Portland, Oregon 97239, USA.
Dongmei JiCenter for Embryonic Cell and Gene Therapy, Oregon Health &Science University, 3303 Southwest, Bond Avenue, Portland, Oregon 97239, USA.
Tomonari HayamaCenter for Embryonic Cell and Gene Therapy, Oregon Health &Science University, 3303 Southwest, Bond Avenue, Portland, Oregon 97239, USA.
Riffat AhmedCenter for Embryonic Cell and Gene Therapy, Oregon Health &Science University, 3303 Southwest, Bond Avenue, Portland, Oregon 97239, USA.
Hayley DarbyCenter for Embryonic Cell and Gene Therapy, Oregon Health &Science University, 3303 Southwest, Bond Avenue, Portland, Oregon 97239, USA.
Crystal Van DykenCenter for Embryonic Cell and Gene Therapy, Oregon Health &Science University, 3303 Southwest, Bond Avenue, Portland, Oregon 97239, USA.
Ying LiCenter for Embryonic Cell and Gene Therapy, Oregon Health &Science University, 3303 Southwest, Bond Avenue, Portland, Oregon 97239, USA.
Eunju KangCenter for Embryonic Cell and Gene Therapy, Oregon Health &Science University, 3303 Southwest, Bond Avenue, Portland, Oregon 97239, USA.
A-Reum ParkCenter for Genome Engineering, Institute for Basic Science, 70, Yuseong-daero 1689-gil, Yuseong-gu, Daejeon, 34047, Republic of Korea.
Daesik KimDepartment of Chemistry, Seoul National University, 599 Gwanak-ro, Gwanak-gu, Seoul, 151-747, Republic of Korea.
Sang-Tae KimCenter for Genome Engineering, Institute for Basic Science, 70, Yuseong-daero 1689-gil, Yuseong-gu, Daejeon, 34047, Republic of Korea.
Jianhui GongBGI-Shenzhen, Build 11, Beishan Industrial Zone, Yantian District, Shenzhen, 518083, China.
Ying GuBGI-Shenzhen, Build 11, Beishan Industrial Zone, Yantian District, Shenzhen, 518083, China.
Xun XuBGI-Shenzhen, Build 11, Beishan Industrial Zone, Yantian District, Shenzhen, 518083, China.
David BattagliaCenter for Embryonic Cell and Gene Therapy, Oregon Health &Science University, 3303 Southwest, Bond Avenue, Portland, Oregon 97239, USA.
Sacha A KriegDivision of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Oregon Health &Science University, 3303 Southwest, Bond Avenue, Portland, Oregon 97239, USA.
David M LeeDivision of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Oregon Health &Science University, 3303 Southwest, Bond Avenue, Portland, Oregon 97239, USA.
Diana H WuDivision of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Oregon Health &Science University, 3303 Southwest, Bond Avenue, Portland, Oregon 97239, USA.
Don P WolfCenter for Embryonic Cell and Gene Therapy, Oregon Health &Science University, 3303 Southwest, Bond Avenue, Portland, Oregon 97239, USA.
Stephen B HeitnerKnight Cardiovascular Institute, Oregon Health &Science University, 3181 Southwest, Sam Jackson Park Road, Portland, Oregon 97239, USA.
Juan Carlos Izpisua BelmonteGene Expression Laboratory, Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, California 92037, USA.
Paula AmatoCenter for Embryonic Cell and Gene Therapy, Oregon Health &Science University, 3303 Southwest, Bond Avenue, Portland, Oregon 97239, USA.
Jin-Soo KimCenter for Genome Engineering, Institute for Basic Science, 70, Yuseong-daero 1689-gil, Yuseong-gu, Daejeon, 34047, Republic of Korea.
Sanjiv KaulKnight Cardiovascular Institute, Oregon Health &Science University, 3181 Southwest, Sam Jackson Park Road, Portland, Oregon 97239, USA.
Shoukhrat MitalipovCenter for Embryonic Cell and Gene Therapy, Oregon Health &Science University, 3303 Southwest, Bond Avenue, Portland, Oregon 97239, USA.
Oregon Health & Science University · USInstitute for Basic Science · KRBGI Group (China) · CNSalk Institute for Biological Studies · USSeoul National University · KR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genome editing has potential for the targeted correction of germline mutations. Here we describe the correction of the heterozygous MYBPC3 mutation in human preimplantation embryos with precise CRISPR-Cas9-based targeting accuracy and high homology-directed repair efficiency by activating an endogenous, germline-specific DNA repair response. Induced double-strand breaks (DSBs) at the mutant paternal allele were predominantly repaired using the homologous wild-type maternal gene instead of a synthetic DNA template. By modulating the cell cycle stage at which the DSB was induced, we were able to avoid mosaicism in cleaving embryos and achieve a high yield of homozygous embryos carrying the wild-type MYBPC3 gene without evidence of off-target mutations. The efficiency, accuracy and safety of the approach presented suggest that it has potential to be used for the correction of heritable mutations in human embryos by complementing preimplantation genetic diagnosis. However, much remains to be considered before clinical applications, including the reproducibility of the technique with other heterozygous mutations.

Indexed as

AdultAllelesBlastocystCarrier ProteinsCell DivisionClustered Regularly Interspaced Short Palindromic RepeatsDNA Breaks, Double-StrandedEmbryo, MammalianGene EditingGene TargetingGenetic Complementation TestHeterozygoteHomozygoteHumansMaleMosaicismCarrier ProteinsMyosin Binding Protein C

Identifiers

PMID28783728
OpenAlexW2740810575

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.