Evidence map›Paper›PMID 33742653›Full record

ArticleGenetics2021

De novo assembly and delivery to mouse cells of a 101 kb functional human gene.

Leslie A Mitchell, Laura H McCulloch, Sudarshan Pinglay, Henri Berger, Nazario Bosco, Ran Brosh, Milica Bulajić, Emily Huang, Megan S Hogan, James A Martin and 4 more

Open access · bronzeAbstract read
In one paragraph

Article in Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.

0numbers the graph read from it
0cells of the map it votes in
36citing papers in PubMed
2.6field-weighted citation impact, top 9% 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

36 citing papers in PubMed, 52 citations in OpenAlex.

  1. Review
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  5. Article
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  7. Facilitators may represent a new class of regulatory elements.Current opinion in genetics & development · 2026
    Review
  8. Review
  9. Genome writing and Targeted Delivery of thebioRxiv : the preprint server for biology · 2026
    Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. The design and engineering of synthetic genomes.Nature reviews. Genetics · 2025
    Review
  19. Review
  20. Recent technology advancements in large-scale DNA assembly.Quantitative biology (Beijing, China) · 2025
    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

14 authors at 2 institutions in 1 country.

Leslie A MitchellInstitute for Systems Genetics, NYU Langone Health, New York, NY 10016, USA.ORCID 0000-0001-7869-9817
Laura H McCullochInstitute for Systems Genetics, NYU Langone Health, New York, NY 10016, USA.
Sudarshan PinglayInstitute for Systems Genetics, NYU Langone Health, New York, NY 10016, USA.
Henri BergerInstitute for Systems Genetics, NYU Langone Health, New York, NY 10016, USA.
Nazario BoscoInstitute for Systems Genetics, NYU Langone Health, New York, NY 10016, USA.
Ran BroshInstitute for Systems Genetics, NYU Langone Health, New York, NY 10016, USA.ORCID 0000-0001-9714-8623
Milica BulajićDepartment of Biology, New York University, New York, NY 10003, USA.ORCID 0000-0001-8592-0022
Emily HuangInstitute for Systems Genetics, NYU Langone Health, New York, NY 10016, USA.ORCID 0000-0002-9558-7814
Megan S HoganInstitute for Systems Genetics, NYU Langone Health, New York, NY 10016, USA.
James A MartinInstitute for Systems Genetics, NYU Langone Health, New York, NY 10016, USA.
Esteban O MazzoniDepartment of Biology, New York University, New York, NY 10003, USA.ORCID 0000-0001-8994-681X
Teresa DavoliInstitute for Systems Genetics, NYU Langone Health, New York, NY 10016, USA.ORCID 0000-0003-4116-9745
Matthew T MauranoInstitute for Systems Genetics, NYU Langone Health, New York, NY 10016, USA.
Jef D BoekeInstitute for Systems Genetics, NYU Langone Health, New York, NY 10016, USA.ORCID 0000-0001-5322-4946
Institute for Systems Biology · USNew York University · US

Funding

Supplement for Center for Synthetic Regulatory Genomics: Building CACNA1C alleles associated with Neuropsychiatric DisordersRM1HG009491 · NHGRI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI Jef D BOEKE · 2018 to 2026
$20.9M
Understanding CTCF Boundaries Controlling Hox Gene ExpressionR01NS100897 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Esteban Orlando Mazzoni, DANNY REINBERG · 2018 to 2026
$4.1M
Studying the Role of Aneuploidy in Cancer Immune EvasionR00CA212621 · NCI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI DAVOLI, TERESA · 2018 to 2020
$704k
Cancer Research UK C5470/A27144NCI NIH HHS R00 CA212621NHGRI NIH HHS RM1 HG009491NINDS NIH HHS R01 NS100897
6 · The paper itself

Abstract

Design and large-scale synthesis of DNA has been applied to the functional study of viral and microbial genomes. New and expanded technology development is required to unlock the transformative potential of such bottom-up approaches to the study of larger mammalian genomes. Two major challenges include assembling and delivering long DNA sequences. Here, we describe a workflow for de novo DNA assembly and delivery that enables functional evaluation of mammalian genes on the length scale of 100 kilobase pairs (kb). The DNA assembly step is supported by an integrated robotic workcell. We demonstrate assembly of the 101 kb human HPRT1 gene in yeast from 3 kb building blocks, precision delivery of the resulting construct to mouse embryonic stem cells, and subsequent expression of the human protein from its full-length human gene in mouse cells. This workflow provides a framework for mammalian genome writing. We envision utility in producing designer variants of human genes linked to disease and their delivery and functional analysis in cell culture or animal models.

Indexed as

AnimalsCloning, MolecularDNAGenetic EngineeringGenetic TechniquesGene Transfer TechniquesGenomeGenomicsHumansHypoxanthine PhosphoribosyltransferaseMiceSequence Analysis, DNAWorkflowDNAHypoxanthine Phosphoribosyltransferasegenome writingmammalian genome engineeringrecombinase-mediated cassette exchangesynthetic genomics

Identifiers

PMID33742653
PMCPMC8128383
OpenAlexW3137811709

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.