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Cells
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A Vertebrate Model for Human Molecular Genetics
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A Vertebrate Model for Human Molecular Genetics

A special issue of Cells (ISSN 2073-4409).

Deadline for manuscript submissions: closed (31 March 2024) | Viewed by 3855

Special Issue Editors

Prof. Dr. Heiko Reutter

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Guest Editor
1. Division of Neonatology and Pediatric Intensive Care (H.R.), Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University Nürnberg-Erlangen, Erlangen, Germany
2. Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany
Interests: molecular genetics; DNA; PCR; DNA sequencing; gene expression; cloning; animal models; zebrafish; developmental genetics; human genetics
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Benjamin Odermatt

E-Mail Website1 Website2 Website3
Guest Editor
1. Medical School, Universität Bonn, Bonn, Germany
2. Neuroanatomy Department, Institute of Anatomy, Bonn, Germany
Interests: zebrafish; genetics; myelin; neuroscience; CNS; gap-junctions; retina; embryonal development; microscopy; anatomy

Special Issue Information

Dear Colleagues,

The identification of genetic factors underlying congenital anomalies or inherited disease that manifest later in life requires subsequent functional characterization in order to understand their molecular pathomechanisms. For functional characterization of possible genetic risk factors, the zebrafish offers several advantages as a model system. Because of their larval transparency and complete ex utero development, zf larvae (zfl) are ideally suited for in vivo imaging analysis. The fish embryo (one- to four-cell stage egg) is easy to transiently genetically manipulate by DNA, RNA or Morpholino (MO) injections or direct gene editing by e.g., CRISPR/Cas. In this respect, the zebrafish has been established as a suitable in vivo vertebrate model for the characterization of human genetic risk factors, providing more possibilities for functional studies than ever before.

This Special Issue will focus on these emerging possibilities of the zebrafish as a vertebrate model system to verify and functionally characterize genetic risk factors identified in human disease.

Prof. Dr. Heiko Reutter
Prof. Dr. Benjamin Odermatt
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cells is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • molecular genetics
  • exome
  • developmental and functional biology
  • vertebrate model
  • zebrafish
  • in vivo
  • functional characterization

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Published Papers (2 papers)

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Research

19 pages, 13411 KiB  
Article
PKD1L1 Is Involved in Congenital Chylothorax
by Jonathan B. Whitchurch, Sophia Schneider, Alina C. Hilger, Ricarda Köllges, Jil D. Stegmann, Lea Waffenschmidt, Laura Dyer, Holger Thiele, Bhanupriya Dhabhai, Tikam Chand Dakal, Andreas Müller, Dominic P. Norris and Heiko M. Reutter
Cells 2024, 13(2), 149; https://doi.org/10.3390/cells13020149 - 12 Jan 2024
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Abstract
Besides visceral heterotaxia, Pkd1l1 null mouse embryos exhibit general edema and perinatal lethality. In humans, congenital chylothorax (CCT) is a frequent cause of fetal hydrops. In 2021, Correa and colleagues reported ultrarare compound heterozygous variants in PKD1L1 exhibiting in two consecutive fetuses with [...] Read more.
Besides visceral heterotaxia, Pkd1l1 null mouse embryos exhibit general edema and perinatal lethality. In humans, congenital chylothorax (CCT) is a frequent cause of fetal hydrops. In 2021, Correa and colleagues reported ultrarare compound heterozygous variants in PKD1L1 exhibiting in two consecutive fetuses with severe hydrops, implicating a direct role of PKD1L1 in fetal hydrops formation. Here, we performed an exome survey and identified ultrarare compound heterozygous variants in PKD1L1 in two of the five case–parent trios with CCT. In one family, the affected carried the ultrarare missense variants c.1543G>A(p.Gly515Arg) and c.3845T>A(p.Val1282Glu). In the other family, the affected carried the ultrarare loss-of-function variant (LoF) c.863delA(p.Asn288Thrfs*3) and the ultrarare missense variant c.6549G>T(p.Gln2183His). Investigation of the variants’ impact on PKD1L1 protein localization suggests the missense variants cause protein dysfunction and the LoF variant causes protein mislocalization. Further analysis of Pkd1l1 mutant mouse embryos revealed about 20% of Pkd1l1−/− embryos display general edema and pleural effusion at 14.5 dpc. Immunofluorescence staining at 14.5 dpc in Pkd1l1−/− embryos displayed both normal and massively altered lymphatic vessel morphologies. Together, our studies suggest the implication of PKD1L1 in congenital lymphatic anomalies, including CCTs. Full article
(This article belongs to the Special Issue A Vertebrate Model for Human Molecular Genetics)
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11 pages, 2838 KiB  
Communication
Development of Woolly Hair and Hairlessness in a CRISPR−Engineered Mutant Mouse Model with KRT71 Mutations
by Tao Zhang, Hongwu Yao, Hejun Wang and Tingting Sui
Cells 2023, 12(13), 1781; https://doi.org/10.3390/cells12131781 - 5 Jul 2023
Cited by 2 | Viewed by 1748
Abstract
Hypotrichosis simplex (HS) and woolly hair (WH) are rare and monogenic disorders of hair loss. HS, characterized by a diffuse loss of hair, usually begins in early childhood and progresses into adulthood. WH displays strong coiled hair involving a localized area of the [...] Read more.
Hypotrichosis simplex (HS) and woolly hair (WH) are rare and monogenic disorders of hair loss. HS, characterized by a diffuse loss of hair, usually begins in early childhood and progresses into adulthood. WH displays strong coiled hair involving a localized area of the scalp or covering the entire side. Mutations in the keratin K71(KRT71) gene have been reported to underlie HS and WH. Here, we report the generation of a mouse model of HS and WH by the co−injection of Cas9 mRNA and sgRNA, targeting exon6 into mouse zygotes. The Krt71−knockout (KO) mice displayed the typical phenotypes, including Krt71 protein expression deletion and curly hair in their full body. Moreover, we found that mice in 3–5 weeks showed a new phenomenon of the complete shedding of hair, which was similar to nude mice. However, we discovered that the mice exhibited no immune deficiency, which was a typical feature of nude mice. To our knowledge, this novel mouse model generated by the CRISPR/Cas9 system mimicked woolly hair and could be valuable for hair disorder studies. Full article
(This article belongs to the Special Issue A Vertebrate Model for Human Molecular Genetics)
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