Abstract
| Original language | English |
|---|---|
| Pages (from-to) | 1027-1035 |
| Number of pages | 9 |
| Journal | Developmental Dynamics |
| Volume | 246 |
| Issue number | 12 |
| DOIs | |
| Publication status | Published - Dec 2017 |
Keywords
- cilia
- Katnb1
- heart
- development
- katanin
- microtubules
Cite this
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Mutations in the Katnb1 gene cause left-right asymmetry and heart defects. / Furtado, M.B.; Merriner, D.J.; Berger, S.; Rhodes, D.; Jamsai, D.; O'Bryan, M.K.
In: Developmental Dynamics, Vol. 246, No. 12, 12.2017, p. 1027-1035.Research output: Contribution to journal › Article › Research › peer-review
TY - JOUR
T1 - Mutations in the Katnb1 gene cause left-right asymmetry and heart defects
AU - Furtado, M.B.
AU - Merriner, D.J.
AU - Berger, S.
AU - Rhodes, D.
AU - Jamsai, D.
AU - O'Bryan, M.K.
PY - 2017/12
Y1 - 2017/12
N2 - The microtubule-severing protein complex katanin is composed two subunits, the ATPase subunit, KATNA1, and the non-catalytic regulatory subunit, KATNB1. Recently, the Katnb1 gene has been linked to infertility, regulation of centriole and cilia formation in fish and mammals, as well as neocortical brain development. KATNB1 protein is expressed in germ cells in humans and mouse, mitotic/meiotic spindles and cilia, although the full expression pattern of the Katnb1 gene has not been described. Results: Using a knockin-knockout mouse model of Katnb1 dysfunction we demonstrate that Katnb1 is ubiquitously expressed during embryonic development, although a stronger expression is seen in the crown cells of the gastrulation organizer, the murine node. Furthermore, null and hypomorphic Katnb1 gene mutations show a novel correlation between Katnb1 dysregulation and the development of impaired left-right signaling, including cardiac malformations. Conclusion: Katanin function is a critical regulator of heart development in mice. These findings are potentially relevant to human cardiac development.
AB - The microtubule-severing protein complex katanin is composed two subunits, the ATPase subunit, KATNA1, and the non-catalytic regulatory subunit, KATNB1. Recently, the Katnb1 gene has been linked to infertility, regulation of centriole and cilia formation in fish and mammals, as well as neocortical brain development. KATNB1 protein is expressed in germ cells in humans and mouse, mitotic/meiotic spindles and cilia, although the full expression pattern of the Katnb1 gene has not been described. Results: Using a knockin-knockout mouse model of Katnb1 dysfunction we demonstrate that Katnb1 is ubiquitously expressed during embryonic development, although a stronger expression is seen in the crown cells of the gastrulation organizer, the murine node. Furthermore, null and hypomorphic Katnb1 gene mutations show a novel correlation between Katnb1 dysregulation and the development of impaired left-right signaling, including cardiac malformations. Conclusion: Katanin function is a critical regulator of heart development in mice. These findings are potentially relevant to human cardiac development.
KW - cilia
KW - Katnb1
KW - heart
KW - development
KW - katanin
KW - microtubules
UR - http://www.scopus.com/inward/record.url?scp=85028872535&partnerID=8YFLogxK
U2 - 10.1002/dvdy.24564
DO - 10.1002/dvdy.24564
M3 - Article
VL - 246
SP - 1027
EP - 1035
JO - Developmental Dynamics
JF - Developmental Dynamics
SN - 1058-8388
IS - 12
ER -