Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans Article Swipe

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Long Guo , Smrithi Salian , Jingyi Xue , Nicola Rath , Justine Rousseau , Hyunyun Kim , Sophie Ehresmann , Shahida Moosa , Norio Nakagawa , Hiroshi Kuroda , Jill Clayton‐Smith , Juan Wang , Zheng Wang , Siddharth Banka , Adam Jackson , Yanmin Zhang , Zhen-jie Wei , Irina Hüning , Theresa Brunet , Hirofumi Ohashi , Molly Thomas , Caleb Bupp , Noriko Miyake , Naomichi Matsumoto , Roberto Mendoza‐Londono , Gregory Costain , Gabriele Hahn , Nataliya Di Donato , Gökhan Yigit , Takahiro Yamada , Gen Nishimura , K. Mark Ansel , Bernd Wollnik , Martin Hrabé de Angelis , André Mégarbané , Jill A. Rosenfeld , Vigo Heissmeyer , Shiro Ikegawa , Philippe M. Campeau ·

YOU? · · 2023 · Open Access · · DOI: https://doi.org/10.1016/j.ajhg.2023.06.001

ERI1 is a 3'-to-5' exoribonuclease involved in RNA metabolic pathways including 5.8S rRNA processing and turnover of histone mRNAs. Its biological and medical significance remain unclear. Here, we uncover a phenotypic dichotomy associated with bi-allelic ERI1 variants by reporting eight affected individuals from seven unrelated families. A severe spondyloepimetaphyseal dysplasia (SEMD) was identified in five affected individuals with missense variants but not in those with bi-allelic null variants, who showed mild intellectual disability and digital anomalies. The ERI1 missense variants cause a loss of the exoribonuclease activity, leading to defective trimming of the 5.8S rRNA 3' end and a decreased degradation of replication-dependent histone mRNAs. Affected-individual-derived induced pluripotent stem cells (iPSCs) showed impaired in vitro chondrogenesis with downregulation of genes regulating skeletal patterning. Our study establishes an entity previously unreported in OMIM and provides a model showing a more severe effect of missense alleles than null alleles within recessive genotypes, suggesting a key role of ERI1-mediated RNA metabolism in human skeletal patterning and chondrogenesis.

Related Topics

Biology

Phenotype

Rna

Concepts

Biology Missense mutation Exoribonuclease Genetics Null allele Phenotype Allele Gene RNA RNase P

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Type: article
Language: en
Landing Page: https://doi.org/10.1016/j.ajhg.2023.06.001
PDF: http://www.cell.com/article/S0002929723002021/pdf
OA Status: bronze
Cited By: 5
References: 55
Related Works: 10
OpenAlex ID: https://openalex.org/W4381620542

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DOI: https://doi.org/10.1016/j.ajhg.2023.06.001

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Title: Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans

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Type: article

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Language: en

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Publication year: 2023

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Publication date: 2023-06-22

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Authors: Long Guo, Smrithi Salian, Jingyi Xue, Nicola Rath, Justine Rousseau, Hyunyun Kim, Sophie Ehresmann, Shahida Moosa, Norio Nakagawa, Hiroshi Kuroda, Jill Clayton‐Smith, Juan Wang, Zheng Wang, Siddharth Banka, Adam Jackson, Yanmin Zhang, Zhen-jie Wei, Irina Hüning, Theresa Brunet, Hirofumi Ohashi, Molly Thomas, Caleb Bupp, Noriko Miyake, Naomichi Matsumoto, Roberto Mendoza‐Londono, Gregory Costain, Gabriele Hahn, Nataliya Di Donato, Gökhan Yigit, Takahiro Yamada, Gen Nishimura, K. Mark Ansel, Bernd Wollnik, Martin Hrabé de Angelis, André Mégarbané, Jill A. Rosenfeld, Vigo Heissmeyer, Shiro Ikegawa, Philippe M. Campeau

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Landing page: https://doi.org/10.1016/j.ajhg.2023.06.001

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PDF URL: https://www.cell.com/article/S0002929723002021/pdf

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OA status: bronze

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OA URL: https://www.cell.com/article/S0002929723002021/pdf

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Concepts: Biology, Missense mutation, Exoribonuclease, Genetics, Null allele, Phenotype, Allele, Gene, RNA, RNase P

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Cited by: 5

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Citations by year (recent): 2025: 3, 2024: 1, 2023: 1

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