Mice with targeted disruption of the fatty acid transport protein 4 (Fatp 4, Slc27a4) gene show features of lethal restrictive dermopathy.
Mice with targeted disruption of the fatty acid transport protein 4 (Fatp 4, Slc27a4) gene show features of lethal restrictive dermopathy.
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DOI：
10.1083/jcb.200207080
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发表时间：
2003-06-23
期刊：
影响因子：
--
通讯作者：
Stremmel W
中科院分区：
文献类型：
--
作者：
Herrmann T;van der Hoeven F;Grone HJ;Stewart AF;Langbein L;Kaiser I;Liebisch G;Gosch I;Buchkremer F;Drobnik W;Schmitz G;Stremmel W
脂肪酸转运蛋白家族是一组进化上保守的蛋白质，参与长链和极长链脂肪酸的细胞摄取和代谢。然而，人们对它们各自的生理作用知之甚少。为了分析脂肪酸转运蛋白 4（Fatp4、Slc27a4）的功能意义，我们培育了具有针对性破坏 Fatp4 基因的小鼠。 Fatp4缺失小鼠表现出新生儿致命的限制性皮肤病的特征。他们的皮肤的特征是过度增殖性角化过度，表皮屏障紊乱，真皮-表皮交界处平坦，毛发皮脂结构数量减少，真皮致密。僵硬的皮肤稠度导致身体形状改变，伴有面部畸形、全身关节屈曲挛缩以及包括吸吮和呼吸缺陷在内的运动障碍。脂质分析表明表皮神经酰胺的脂肪酸组成受到干扰，特别是 C26:0 和 C26:0-OH 脂肪酸替代品的减少。这些发现揭示了 Fatp4 在表皮屏障形成中的一个先前未知的重要功能。
The fatty acid transport protein family is a group of evolutionarily conserved proteins that are involved in the cellular uptake and metabolism of long and very long chain fatty acids. However, little is known about their respective physiological roles. To analyze the functional significance of fatty acid transport protein 4 (Fatp4, Slc27a4), we generated mice with a targeted disruption of the Fatp4 gene. Fatp4-null mice displayed features of a neonatally lethal restrictive dermopathy. Their skin was characterized by hyperproliferative hyperkeratosis with a disturbed epidermal barrier, a flat dermal–epidermal junction, a reduced number of pilo-sebaceous structures, and a compact dermis. The rigid skin consistency resulted in an altered body shape with facial dysmorphia, generalized joint flexion contractures, and impaired movement including suckling and breathing deficiencies. Lipid analysis demonstrated a disturbed fatty acid composition of epidermal ceramides, in particular a decrease in the C26:0 and C26:0-OH fatty acid substitutes. These findings reveal a previously unknown, essential function of Fatp4 in the formation of the epidermal barrier.
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影响因子：
7.8
作者：
Furuse, Mikio;Hata, Masaki;Furuse, Kyoko;Yoshida, Yoko;Haratake, Akinori;Sugitani, Yoshinobu;Noda, Tetsuo;Kubo, Akiharu;Tsukita, Shoichiro
通讯作者：
Tsukita, Shoichiro
影响因子：
6.5
作者：
Pummi, K;Malminen, M;Peltonen, S
通讯作者：
Peltonen, S
影响因子：
4.8
作者：
Coe, NR;Smith, AJ;Bernlohr, DA
通讯作者：
Bernlohr, DA
DOI：
10.1073/pnas.95.15.8625
发表时间：
1998-07-21
影响因子：
11.1
作者：
Hirsch, D;Stahl, A;Lodish, HF
通讯作者：
Lodish, HF
DOI：
10.1165/ajrcmb.21.3.3676
发表时间：
1999-09-01
影响因子：
6.4
作者：
Elhalwagi, BM;Zhang, M;McCormack, FX
通讯作者：
McCormack, FX