Joint Public Review: Association of an estrogen-sensitive Pax1-Col11a1-Mmp3 signaling axis with adolescent idiopathic scoliosis Article Swipe
Hao Yu
,
Anas M. Khanshour
,
Aki Ushiki
,
Nao Otomo
,
Yoshinao Koike
,
Elísabet Einarsdóttir
,
Yanhui Fan
,
Lilian Antunes
,
Yared H. Kidane
,
Reuel Cornelia
,
Rory Sheng
,
Yichi Zhang
,
Jimin Pei
,
Nick V. Grishin
,
Bret M. Evers
,
Jason Pui Yin Cheung
,
John A. Herring
,
Chikashi Terao
,
You‐Qiang Song
,
Christina A. Gurnett
,
Paul Gerdhem
,
Shiro Ikegawa
,
Jonathan J. Rios
,
Nadav Ahituv
,
Carol A. Wise
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.7554/elife.89762.1.sa0
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.7554/elife.89762.1.sa0
Adolescent idiopathic scoliosis (AIS) is a common and progressive spinal deformity in children that exhibits striking sexual dimorphism, with girls at more than five-fold greater risk of severe disease compared to boys. Despite its medical impact, the molecular mechanisms that drive AIS are largely unknown. We previously defined a female-specific AIS genetic risk locus in an enhancer near the PAX1 gene. Here we sought to define the roles of PAX1 and newly-identified AIS-associated genes in the developmental mechanism of AIS. In a genetic study of 9,161 individuals with AIS and 80,731 unaffected controls, significant association was identified with a variant in COL11A1 encoding collagen (α1) XI (rs3753841; NM_080629_c.4004C>T; p.(Pro1335Leu); P=7.07e−11, OR=1.118). Using CRISPR mutagenesis we generated Pax1 knockout mice (Pax1−/−). In postnatal spines we found that Pax1 and collagen (α1) XI protein both localize within the intervertebral disc (IVD)-vertebral junction region encompassing the growth plate, with less collagen (α1) XI detected in Pax1−/− spines compared to wildtype. By genetic targeting we found that wildtype Col11a1 expression in growth plate cells (GPCs) suppresses expression of Pax1 and of Mmp3, encoding the matrix metalloproteinase 3 enzyme implicated in matrix remodeling. However, this suppression was abrogated in the presence of the AIS-associated COL11A1P1335L mutant. Further, we found that either knockdown of the estrogen receptor gene Esr2, or tamoxifen treatment, significantly altered Col11a1 and Mmp3 expression in GPCs. These studies support a new molecular model of AIS pathogenesis wherein genetic variation and estrogen signaling increase disease susceptibility by altering a Pax1-Col11a1-Mmp3 signaling axis in the growth plate.
Related Topics
Concepts
MMP3
Gene knockdown
Estrogen receptor
Biology
Estrogen receptor alpha
Genetics
Enhancer
Pathogenesis
Medicine
Bioinformatics
Cancer research
Internal medicine
Gene
Gene expression
Cancer
Breast cancer
Metadata
- Type
- peer-review
- Language
- en
- Landing Page
- https://doi.org/10.7554/elife.89762.1.sa0
- OA Status
- gold
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4387096253
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4387096253Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.7554/elife.89762.1.sa0Digital Object Identifier
- Title
-
Joint Public Review: Association of an estrogen-sensitive Pax1-Col11a1-Mmp3 signaling axis with adolescent idiopathic scoliosisWork title
- Type
-
peer-reviewOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-09-27Full publication date if available
- Authors
-
Hao Yu, Anas M. Khanshour, Aki Ushiki, Nao Otomo, Yoshinao Koike, Elísabet Einarsdóttir, Yanhui Fan, Lilian Antunes, Yared H. Kidane, Reuel Cornelia, Rory Sheng, Yichi Zhang, Jimin Pei, Nick V. Grishin, Bret M. Evers, Jason Pui Yin Cheung, John A. Herring, Chikashi Terao, You‐Qiang Song, Christina A. Gurnett, Paul Gerdhem, Shiro Ikegawa, Jonathan J. Rios, Nadav Ahituv, Carol A. WiseList of authors in order
- Landing page
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https://doi.org/10.7554/elife.89762.1.sa0Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://doi.org/10.7554/elife.89762.1.sa0Direct OA link when available
- Concepts
-
MMP3, Gene knockdown, Estrogen receptor, Biology, Estrogen receptor alpha, Genetics, Enhancer, Pathogenesis, Medicine, Bioinformatics, Cancer research, Internal medicine, Gene, Gene expression, Cancer, Breast cancerTop concepts (fields/topics) attached by OpenAlex
- Cited by
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0Total citation count in OpenAlex
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| related_works | https://openalex.org/W2531760762, https://openalex.org/W3023683602, https://openalex.org/W2154937055, https://openalex.org/W2363180692, https://openalex.org/W2076822465, https://openalex.org/W2342462201, https://openalex.org/W4241055432, https://openalex.org/W2186235043, https://openalex.org/W2519207913, https://openalex.org/W4251404866 |
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| publication_date | 2023-09-27 |
| publication_year | 2023 |
| referenced_works_count | 0 |
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