[1] K. Ueda, ABC proteins protect the human body and maintain optimal health, Biosci. Biotechnol. Biochem. 75 (2011) 401–409.
[2] C. Thomas, S.G. Aller, K. Beis, E.P. Carpenter, G. Chang, L. Chen, E. Dassa, M. Dean, F. Duong Van Hoa, D. Ekiert, et al., Structural and functional diversity calls
for a new classification of ABC transporters, FEBS Lett. 594 (2020) 3767–3775.
[3] M. Dean, T. Annilo, Evolution of the ATP-binding cassette (ABC) transporter superfamily in vertebrates, Annu. Rev. Genom. Hum. Genet. 6 (2005) 123–142.
[4] M. Nakato, N. Shiranaga, M. Tomioka, H. Watanabe, J. Kurisu, M. Kengaku, N. Komura, H. Ando, Y. Kimura, N. Kioka, et al., ABCA13 dysfunction associated
with psychiatric disorders causes impaired cholesterol traf fi cking, J. Biol. Chem. 296 (2021), 100166, https://doi.org/10.1074/jbc.RA120.015997. Available
at:.
[5] K. Nagata, A. Yamamoto, N. Ban, A.R. Tanaka, M. Matsuo, N. Kioka, N. Inagaki, K. Ueda, Human ABCA3, a product of a responsible gene for abca3 for fatal
surfactant deficiency in newborns, exhibits unique ATP hydrolysis activity and generates intracellular multilamellar vesicles, Biochem. Biophys. Res. Commun.
324 (2004) 262–268.
[6] M. Akiyama, Y. Sugiyama-Nakagiri, K. Sakai, J.R. McMillan, M. Goto, K. Arita, Y. Tsuji-Abe, N. Tabata, K. Matsuoka, R. Sasaki, et al., Mutations in lipid
transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer, J. Clin. Invest. 115 (2005) 1777–1784.
[7] A.R. Tanaka, Y. Ikeda, S. Abe-Dohmae, R. Arakawa, K. Sadanami, A. Kidera, S. Nakagawa, T. Nagase, R. Aoki, N. Kioka, et al., Human ABCA1 contains a large
amino-terminal extracellular domain homologous to an epitope of Sj¨
ogren’s syndrome, Biochem. Biophys. Res. Commun. 283 (2001) 1019–1025.
[8] A. Brooks-Wilson, M. Marcil, S.M. Clee, L.H. Zhang, K. Roomp, M. Van Dam, L. Yu, C. Brewer, J.A. Collins, H.O.F. Molhuizen, et al., Mutations in ABC1 in
Tangier disease and familial high-density lipoprotein deficiency, Nat. Genet. 22 (1999) 336–345.
[9] S. Rust, M. Rosier, H. Funke, J. Real, Z. Amoura, J.C. Piette, J.F. Deleuze, H.B. Brewer, N. Duverger, P. Den`efle, et al., Tangier disease is caused by mutations in
the gene encoding ATP-binding cassette transporter 1, Nat. Genet. 22 (1999) 352–355.
[10] M. Bodzioch, E. Ors´
o, J. Klucken, T. Langmann, A. B¨
ottcher, W. Diederich, W. Drobnik, S. Barlage, C. Büchler, M. Porsch-Ozcürümez,
et al., The gene encoding
ATP-binding cassette transporter I is mutated in Tangier disease, Nat. Genet. 22 (1999) 347–351.
[11] J. McNeish, R.J. Aiello, D. Guyot, T. Turi, C. Gabel, C. Aldinger, K.L. Hoppe, M.L. Roach, L.J. Royer, J. De Wet, et al., High density lipoprotein deficiency and
foam cell accumulation in mice with targeted disruption of ATp-binding cassette transporter-1, Proc. Natl. Acad. Sci. U.S.A. 97 (2000) 4245–4250.
[12] T.A. Christiansen-Weber, J.R. Voland, Y. Wu, K. Ngo, B.L. Roland, S. Nguyen, P.A. Peterson, W.P. Fung-Leung, Functional loss of ABCA1 in mice causes severe
placental malformation, aberrant lipid distribution, and kidney glomerulonephritis as well as high-density lipoprotein cholesterol deficiency, Am. J. Pathol. 157
(2000) 1017–1029, https://doi.org/10.1016/S0002-9440(10)64614-7. Available at:.
[13] S.A. Schreyer, L.K. Hart, A.D. Attie, Hypercatabolism of lipoprotein-free apolipoprotein A-I in HDL-deficient mutant chickens, Arterioscler. Thromb. 14 (1994)
2053–2059.
[14] E. Ors´
o, C. Broccardo, W.E. Kaminski, A. B¨
ottcher, G. Liebisch, W. Drobnik, A. G¨
otz, O. Chambenoit, W. Diederich, T. Langmann, et al., Transport of lipids from
Golgi to plasma membrane is defective in tangier disease patients and Abc1-deficient mice, Nat. Genet. 24 (2000) 192–196.
[15] W. Drobnik, B. Lindenthal, B. Lieser, M. Ritter, T.C. Weber, G. Liebisch, U. Giesa, M. Igel, H. Borsukova, C. Büchler, et al., ATP-binding cassette transporter A1
(ABCA1) affects total body sterol metabolism, Gastroenterology 120 (2001) 1203–1211.
[16] F. Poernama, S.A. Schreyer, J.J. Bitgood, M.E. Cook, A.D. Attie, Spontaneous high density lipoprotein deficiency syndrome associated with a Z-linked mutation
in chickens, J. Lipid Res. 31 (1990) 955–963.
[17] A.D. Attie, Y. Hamon, A.R. Brooks-Wilson, M.P. Gray-Keller, M.L.E. MacDonald, V. Rigot, A. Tebon, L.H. Zhang, J.D. Mulligan, R.R. Singaraja, et al.,
Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken, J. Lipid Res. 43 (2002) 1610–1617.
[18] A.R. Tanaka, S. Abe-Dohmae, T. Ohnishi, R. Aoki, G. Morinaga, K.I. Okuhira, Y. Ikeda, F. Kano, M. Matsuo, N. Kioka, et al., Effects of mutations of ABCA1 in the
first extracellular domain on subcellular trafficking and ATP binding/hydrolysis, J. Biol. Chem. 278 (2003) 8815–8819.
[19] W.P. Castelli, J.T. Doyle, T. Gordon, C.G. Hames, M.C. Hjortland, S.B. Hulley, A. Kagan, W.J. Zukel, HDL cholesterol and other lipids in coronary heart disease.
The cooperative lipoprotein phenotyping study, Circulation 55 (1977) 767–772.
[20] A.G. Groenen, B. Halmos, A.R. Tall, M. Westerterp, Cholesterol efflux pathways, inflammation, and atherosclerosis, Crit. Rev. Biochem. Mol. Biol. 56 (2021)
426–439, https://doi.org/10.1080/10409238.2021.1925217. Available at:.
[21] G.M. Ducasa, A. Mitrofanova, S.K. Mallela, X. Liu, J. Molina, A. Sloan, C.E. Pedigo, M. Ge, J.V. Santos, Y. Hernandez, et al., ATP-binding cassette A1 deficiency
causes cardiolipin-driven mitochondrial dysfunction in podocytes, J. Clin. Invest. 129 (2019) 3387–3400.
10
Heliyon 9 (2023) e13291
R. Futamata et al.
[22] M. Westerterp, E.L. Gautier, A. Ganda, M.M. Molusky, W. Wang, P. Fotakis, N. Wang, G.J. Randolph, V.D. D’Agati, L. Yvan-Charvet, et al., Cholesterol
accumulation in dendritic cells links the inflammasome to acquired immunity, Cell Metabol. 25 (2017) 1294–1304, https://doi.org/10.1016/j.
cmet.2017.04.005, e6. Available at:.
[23] Y.M. Morizawa, Y. Hirayama, N. Ohno, S. Shibata, E. Shigetomi, Y. Sui, J. Nabekura, K. Sato, F. Okajima, H. Takebayashi, et al., Reactive astrocytes function as
phagocytes after brain ischemia via ABCA1-mediated pathway, Nat. Commun. 8 (2017).
[24] S.H. Moon, C.H. Huang, S.L. Houlihan, K. Regunath, W.A. Freed-Pastor, J.P. Morris, D.F. Tschaharganeh, E.R. Kastenhuber, A.M. Barsotti, R. Culp-Hill, et al.,
p53 represses the mevalonate pathway to mediate tumor suppression, Cell 176 (2019) 564–580.e19, https://doi.org/10.1016/j.cell.2018.11.011. Available at:.
[25] S. Ito, N. Kioka, K. Ueda, Cell migration is negatively modulated by ABCA1, Biosci. Biotechnol. Biochem. 83 (2019) 463–471, https://doi.org/10.1080/
09168451.2018.1547105. Available at:.
[26] M. Frechin, T. Stoeger, S. Daetwyler, C. Gehin, N. Battich, E.M. Damm, L. Stergiou, H. Riezman, L. Pelkmans, Cell-intrinsic adaptation of lipid composition to
local crowding drives social behaviour, Nature 523 (2015) 88–91.
[27] R.J. Aiello, D. Brees, O.L. Francone, ABCA1-deficient mice: insights into the role of monocyte lipid efflux in HDl formation and inflammation, Arterioscler.
Thromb. Vasc. Biol. 23 (2003) 972–980.
[28] Y. Murakami, S. Ansai, A. Yonemura, M. Kinoshita, An efficient system for homology-dependent targeted gene integration in medaka (Oryzias latipes), Zool.
Lett. 3 (2017) 1–13.
[29] M. Tanaka, M. Kinoshita, Recent progress in the generation of transgenic medaka (Oryzias latipes), Zool. Sci. (Tokyo) 18 (2001) 615–622.
[30] S. Ansai, M. Kinoshita, Targeted mutagenesis using CRISPR/Cas system in medaka, Biol. Open 3 (2014) 362–371.
[31] Y. Murakami, R. Futamata, T. Horibe, K. Ueda, M. Kinoshita, CRISPR/Cas9 nickase-mediated efficient and seamless knock-in of lethal genes in the medaka fish
Oryzias latipes, Dev. Growth Differ. 62 (2020) 554–567.
[32] T.W. Loo, M. Claire Bartlett, D.M. Clarke, The “LSGGQ” motif in each nucleotide-binding domain of human P-glycoprotein is adjacent to the opposing Walker A
sequence, J. Biol. Chem. 277 (2002) 41303–41306.
[33] M.L. Oldham, J. Chen, Snapshots of the maltose transporter during ATP hydrolysis, Proc. Natl. Acad. Sci. U.S.A. 108 (2011) 15152–15156.
[34] K. Nagao, Y. Zhao, K. Takahashi, Y. Kimura, K. Ueda, Sodium taurocholate-dependent lipid efflux by ABCA1: effects of W590S mutation on lipid translocation
and apolipoprotein A-I dissociation, J. Lipid Res. 50 (2009) 1165–1172, https://doi.org/10.1194/jlr.M800597-JLR200. Available at:.
[35] T. Iwamatsu, T. Ohta, E. Oshima, N. Sakai, Oogenesis in the medaka orizias latipes -stages of oocyte development, Zool. Sci. (Tokyo) 5 (1988) 353–373.
[36] K. Ogiwara, N. Takano, M. Shinohara, M. Murakami, T. Takahashi, Gelatinase A and membrane-type matrix metalloproteinases 1 and 2 are responsible for
follicle rupture during ovulation in the medaka, Proc. Natl. Acad. Sci. U.S.A. 102 (2005) 8442–8447.
[37] T. Takahashi, A. Hagiwara, K. Ogiwara, Follicle rupture during ovulation with an emphasis on recent progress in fish models, Reproduction 157 (2019) R1–R13.
[38] M. Westerterp, E.L. Gautier, A. Ganda, M.M. Molusky, W. Wang, P. Fotakis, N. Wang, G.J. Randolph, V.D. D’Agati, L. Yvan-Charvet, et al., Cholesterol
accumulation in dendritic cells links the inflammasome to acquired immunity, Cell Metabol. 25 (2017) 1294–1304.e6.
[39] S.M.K. Glasauer, S.C.F. Neuhauss, Whole-genome duplication in teleost fishes and its evolutionary consequences, Mol. Genet. Genom. 289 (2014) 1045–1060.
[40] W.E. Connor, P.B. Duell, R. Kean, Y. Wang, The prime role of HDL to transport lutein into the retina: evidence from HDL-deficient WHAM chicks having a
mutant ABCA1 transporter, Investig. Ophthalmol. Vis. Sci. 48 (2007) 4226–4231.
[41] S. Fukada, N. Sakai, S. Adachi, Y. Nagahama, Steroidogenesis in the Ovarian Follicle of Medaka (Oryzias latipes, a daily spawner) during Oocyte Maturation:
oocyte maturation/maturation-inducing hormone/17 α,20β-dihydroxy-4-pregnen-3-one/medaka/teleost, Dev. Growth Differ. 36 (1994) 81–88.
[42] N. Sakai, T. Iwamatsu, K. Yamauchi, N. Suzuki, Y. Nagahama, Influence of follicular development on steroid production in the medaka (Oryzias latipes) ovarian
follicle in response to exogenous substrates, Gen. Comp. Endocrinol. 71 (1988) 516–523.
[43] H.E. Miettinen, H. Rayburn, M. Krieger, Abnormal lipoprotein metabolism and reversible female infertility in HDL receptor (SR-BI)-deficient mice, J. Clin.
Invest. 108 (2001) 1717–1722.
[44] A. Yesilaltay, G.A. Dokshin, D. Busso, L. Wang, D. Galiani, T. Chavarria, E. Vasile, L. Quilaqueo, J.A. Orellana, D. Walzer, et al., Excess cholesterol induces mouse
egg activation and may cause female infertility, Proc. Natl. Acad. Sci. U.S.A. 111 (2014) E4972–E4980.
[45] A. Quiroz, P. Molina, N. Santander, D. Gallardo, A. Rigotti, D. Busso, Ovarian cholesterol efflux: ATP-binding cassette transporters and follicular fluid HDL
regulate cholesterol content in mouse oocytes, Biol. Reprod. 102 (2020) 348–361.
[46] L. S`
edes, L. Thirouard, S. Maqdasy, M. Garcia, F. Caira, J.M.A. Lobaccaro, C. Beaudoin, D.H. Volle, Cholesterol: a gatekeeper of male fertility? Front. Endocrinol.
9 (2018) 1–13.
[47] D.M. Selva, V. Hirsch-Reinshagen, B. Burgess, S. Zhou, J. Chan, S. McIsaac, M.R. Hayden, G.L. Hammond, A.W. Vogl, C.L. Wellington, The ATP-binding cassette
transporter 1 mediates lipid efflux from Sertoli cells and influences male fertility, J. Lipid Res. 45 (2004) 1040–1050.
[48] B. Trigatti, H. Rayburn, M. Vi˜
nals, A. Braun, H. Miettinen, M. Penman, M. Hertz, M. Schrenzel, L. Amigo, A. Rigotti, et al., Influence of the high density
lipoprotein receptor SR-BI on reproductive and cardiovascular pathophysiology, Proc. Natl. Acad. Sci. U.S.A. 96 (1999) 9322–9327.
[49] L. Stocchi, E. Giardina, L. Varriale, A. Sechi, A. Vagnini, G. Parri, M. Valentini, M. Capalbo, Can Tangier disease cause male infertility? A case report and an
overview on genetic causes of male infertility and hormonal axis involved, Mol. Genet. Metabol. 123 (2018) 43–49, https://doi.org/10.1016/j.
ymgme.2017.11.009. Available at:.
[50] J. Buschiazzo, C. Ialy-Radio, J. Auer, J.P. Wolf, C. Serres, B. Lef`evre, A. Ziyyat, Cholesterol depletion disorganizes oocyte membrane rafts altering mouse
fertilization, PLoS One 8 (2013).
[51] J.F. Oram, A.M. Vaughan, R. Stocker, ATP-Binding cassette transporter A1 mediates cellular secretion of α-tocopherol, J. Biol. Chem. 276 (2001) 39898–39902.
[52] M. Ishigami, F. Ogasawara, K. Nagao, H. Hashimoto, Y. Kimura, N. Kioka, K. Ueda, Temporary sequestration of cholesterol and phosphatidylcholine within
extracellular domains of ABCA1 during nascent HDL generation, Sci. Rep. 8 (2018) 2–11, https://doi.org/10.1038/s41598-018-24428-6. Available at:.
[53] R. Futamata, N. Kioka, K. Ueda, Live cell FRET analysis of the conformational changes of human P-glycoprotein, Bio-protocol 11 (2021) 1–17.
[54] G. Toshima, Y. Iwama, F. Kimura, Y. Matsumoto, M. Miura, LipoSEARCH ® ; Analytical GP-HPLC method for lipoprotein profiling and its applications, J. Biol.
Macromol. 13 (2013) 21–32.
11
...
論文の公開元へ
