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FältnamnIndikatorerMetadata
00011740naa a2200793 4500
001oai:DiVA.org:kth-343194
003SwePub
008240208s2024 | |||||||||||000 ||eng|
009oai:DiVA.org:uu-522981
009oai:prod.swepub.kib.ki.se:154820931
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-3431942 URI
0247 a https://doi.org/10.7554/eLife.897622 DOI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-5229812 URI
0247 a http://kipublications.ki.se/Default.aspx?queryparsed=id:1548209312 URI
040 a (SwePub)kthd (SwePub)uud (SwePub)ki
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Yu, Haou Center for Translational Research, Scottish Rite for Children, Dallas, United States,Scottish Rite Children, Ctr Excellence Hip, Dallas, TX 75219 USA.4 aut
2451 0a Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis
264 1b eLife Sciences Publications, Ltd,c 2024
338 a print2 rdacarrier
500 a QC 20240212
520 a Adolescent idiopathic scoliosis (AIS) is a common and progressive spinal deformity in children that exhibits striking sexual dimorphism, with girls at more than fivefold 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 10,519 individuals with AIS and 93,238 unaffected controls, significant association was identified with a variant in COL11A1 encoding collagen (α1) XI (rs3753841; NM_080629.2_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-vertebral junction region encompassing the growth plate, with less collagen (α1) XI detected in Pax1-/- spines compared to wild-type. By genetic targeting we found that wild-type Col11a1 expression in costal chondrocytes suppresses expression of Pax1 and of Mmp3, encoding the matrix metalloproteinase 3 enzyme implicated in matrix remodeling. However, the latter 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 chondrocytes. We propose 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 spinal chondrocytes.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Cell- och molekylärbiologi0 (SwePub)301082 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Cell and Molecular Biology0 (SwePub)301082 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Ortopedi0 (SwePub)302112 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Orthopaedics0 (SwePub)302112 hsv//eng
653 a collagen XI
653 a estrogen signaling
653 a extracellular matrix
653 a genetics
653 a genomics
653 a human
653 a mouse
653 a scoliosis
7001 a Khanshour, Anas M.u Center for Translational Research, Scottish Rite for Children, Dallas, United States,Scottish Rite Children, Ctr Excellence Hip, Dallas, TX 75219 USA.4 aut
7001 a Ushiki, Akiu Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, United States; Institute for Human Genetics, University of California, San Francisco, San Francisco, United States,Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA USA.;Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA.4 aut
7001 a Otomo, Naou Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan,RIKEN Ctr Integrat Med Sci, Lab Bone & Joint Dis, Tokyo, Japan.4 aut
7001 a Koike, Yoshinaou Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan; Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan,RIKEN Ctr Integrat Med Sci, Lab Bone & Joint Dis, Tokyo, Japan.;RIKEN Ctr Integrat Med Sci, Lab Stat & Translat Genet, Yokohama, Japan.4 aut
7001 a Einarsdottir, Elisabetu KTH,Genteknologi,Science for Life Laboratory, SciLifeLab,KTH Royal Inst Technol, Dept Gene Technol, Sci Life Lab, Solna, Sweden.4 aut0 (Swepub:kth)u1jgep5v
7001 a Fan, Yanhuiu School of Biomedical Sciences, The University of Hong Kong, Hong Kong SAR, China,Univ Hong Kong, Sch Biomed Sci, Hong Kong, Peoples R China.4 aut
7001 a Antunes, Lilianu Department of Neurology, Washington University in St. Louis, St. Louis, United States,Washington Univ St Louis, Dept Neurol, St Louis, MO USA.4 aut
7001 a Kidane, Yared H.u Center for Translational Research, Scottish Rite for Children, Dallas, United States,Scottish Rite Children, Ctr Excellence Hip, Dallas, TX 75219 USA.4 aut
7001 a Cornelia, Reuelu Center for Translational Research, Scottish Rite for Children, Dallas, United States,Scottish Rite Children, Ctr Excellence Hip, Dallas, TX 75219 USA.4 aut
7001 a Sheng, Rory R.u Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, United States; Institute for Human Genetics, University of California, San Francisco, San Francisco, United States,Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA USA.;Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA.4 aut
7001 a Zhang, Yichiu Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, United States Institute for Human Genetics, University of California, San Francisco, San Francisco, United States; School of Pharmaceutical Sciences, Tsinghua University, Beijing, China;,Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA USA.;Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA.;Tsinghua Univ, Sch Pharmaceut Sci, Beijing, Peoples R China.4 aut
7001 a Pei, Jiminu Department of Biophysics, University of Texas Southwestern Medical Center, Dallas, United States,Univ Texas Southwestern Med Ctr Dallas, Dept Biophys, Dallas, TX 75231 USA.4 aut
7001 a Grishin, Nick V.u Department of Biophysics, University of Texas Southwestern Medical Center, Dallas, United States,Univ Texas Southwestern Med Ctr Dallas, Dept Biophys, Dallas, TX 75231 USA.4 aut
7001 a Evers, Bret M.u Department of Pathology, University of Texas Southwestern Medical Center, Dallas, United States; Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, United States,Univ Texas Southwestern Med Ctr, Dept Pathol, Dallas, TX USA.;Univ Texas Southwestern Med Ctr, Dept Ophthalmol, Dallas, TX USA.4 aut
7001 a Cheung, Jason Pui Yinu Department of Orthopaedics and Traumatology LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China,Univ Hong Kong, Dept Orthopaed & Traumatol, LKS Fac Med, Hong Kong, Peoples R China.4 aut
7001 a Herring, John A.u Department of Orthopedic Surgery, Scottish Rite for Children, Dallas, United States; Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center, Dallas, United States,Scottish Rite Children, Dept Orthoped Surg, Dallas, TX USA.;Univ Texas Southwestern Med Ctr, Dept Orthopaed Surg, Dallas, TX 75390 USA.4 aut
7001 a Terao, Chikashiu Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan,RIKEN Ctr Integrat Med Sci, Lab Stat & Translat Genet, Yokohama, Japan.4 aut
7001 a Song, You Qiangu School of Biomedical Sciences, The University of Hong Kong, Hong Kong SAR, China,Univ Hong Kong, Sch Biomed Sci, Hong Kong, Peoples R China.4 aut
7001 a Gurnett, Christina A.u Department of Neurology, Washington University in St. Louis, St. Louis, United States,Washington Univ St Louis, Dept Neurol, St Louis, MO USA.4 aut
7001 a Gerdhem, Paulu Karolinska Institutet,Uppsala universitet,Ortopedi och Handkirurgi,Uppsala Univ Hosp, Dept Orthopaed & Hand Surg, Uppsala, Sweden; Karolinska Inst, Dept Clin Sci Intervent & Technol CLINTEC, Stockholm, Sweden4 aut0 (Swepub:uu)pauge104
7001 a Ikegawa, Shirou Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan,RIKEN Ctr Integrat Med Sci, Lab Bone & Joint Dis, Tokyo, Japan.4 aut
7001 a Rios, Jonathan J.u Center for Translational Research, Scottish Rite for Children, Dallas, United States; Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center, Dallas, United States; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, United States; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, United States,Scottish Rite Children, Ctr Excellence Hip, Dallas, TX 75219 USA.;Univ Texas Southwestern Med Ctr, Dept Orthopaed Surg, Dallas, TX 75390 USA.;Univ Texas Southwestern Med Ctr, Eugene McDermott Ctr Human Growth & Dev, Dallas, TX 75390 USA.;Univ Texas Southwestern Med Ctr, Dept Pediat, Dallas, TX 75390 USA.4 aut
7001 a Ahituv, Nadavu Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, United States; Institute for Human Genetics, University of California, San Francisco, San Francisco, United States,Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA USA.;Univ Calif San Francisco, Inst Human Genet, San Francisco, CA USA.4 aut
7001 a Wise, Carol A.u Center for Translational Research, Scottish Rite for Children, Dallas, United States; Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center, Dallas, United States; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, United States; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, United States,Scottish Rite Children, Ctr Excellence Hip, Dallas, TX 75219 USA.;Univ Texas Southwestern Med Ctr, Dept Orthopaed Surg, Dallas, TX 75390 USA.;Univ Texas Southwestern Med Ctr, Eugene McDermott Ctr Human Growth & Dev, Dallas, TX 75390 USA.;Univ Texas Southwestern Med Ctr, Dept Pediat, Dallas, TX 75390 USA.4 aut
7102 a Center for Translational Research, Scottish Rite for Children, Dallas, United Statesb Scottish Rite Children, Ctr Excellence Hip, Dallas, TX 75219 USA.4 org
7730 t eLIFEd : eLife Sciences Publications, Ltdg 12q 12x 2050-084X
8564 u https://doi.org/10.7554/eLife.89762y Fulltext
8564 u https://uu.diva-portal.org/smash/get/diva2:1838212/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-343194
8564 8u https://doi.org/10.7554/eLife.89762
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-522981
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:154820931

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