Nature Communications (Jul 2021)
Joint disease-specificity at the regulatory base-pair level
- Pushpanathan Muthuirulan,
- Dewei Zhao,
- Mariel Young,
- Daniel Richard,
- Zun Liu,
- Alireza Emami,
- Gabriela Portilla,
- Shayan Hosseinzadeh,
- Jiaxue Cao,
- David Maridas,
- Mary Sedlak,
- Danilo Menghini,
- Liangliang Cheng,
- Lu Li,
- Xinjia Ding,
- Yan Ding,
- Vicki Rosen,
- Ata M. Kiapour,
- Terence D. Capellini
Affiliations
- Pushpanathan Muthuirulan
- Department of Human Evolutionary Biology, Harvard University
- Dewei Zhao
- Department of Orthopedics, Affiliated Zhongshan Hospital of Dalian University
- Mariel Young
- Department of Human Evolutionary Biology, Harvard University
- Daniel Richard
- Department of Human Evolutionary Biology, Harvard University
- Zun Liu
- Department of Human Evolutionary Biology, Harvard University
- Alireza Emami
- Department of Orthopaedic Surgery, Boston Children’s Hospital, Harvard Medical School
- Gabriela Portilla
- Department of Orthopaedic Surgery, Boston Children’s Hospital, Harvard Medical School
- Shayan Hosseinzadeh
- Department of Orthopaedic Surgery, Boston Children’s Hospital, Harvard Medical School
- Jiaxue Cao
- Department of Human Evolutionary Biology, Harvard University
- David Maridas
- Department of Developmental Biology, Harvard School of Dental Medicine
- Mary Sedlak
- Department of Human Evolutionary Biology, Harvard University
- Danilo Menghini
- Department of Orthopaedic Surgery, Boston Children’s Hospital, Harvard Medical School
- Liangliang Cheng
- Department of Orthopedics, Affiliated Zhongshan Hospital of Dalian University
- Lu Li
- Department of Orthopedics, Affiliated Zhongshan Hospital of Dalian University
- Xinjia Ding
- Department of Surgery, the Second Affiliated Hospital of Dalian Medical University
- Yan Ding
- Department of Pediatrics, Boston Children’s Hospital, Harvard Medical School
- Vicki Rosen
- Department of Developmental Biology, Harvard School of Dental Medicine
- Ata M. Kiapour
- Department of Orthopaedic Surgery, Boston Children’s Hospital, Harvard Medical School
- Terence D. Capellini
- Department of Human Evolutionary Biology, Harvard University
- DOI
- https://doi.org/10.1038/s41467-021-24345-9
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 16
Abstract
While many genetic loci have been found to be associated with disease, not many have had their causal variants and mechanisms investigated. Here, the authors experimentally dissect two loci near GDF5 which are associated with two different joint disorders and which map to independent regulatory elements.
