Mammalian septins in health and disease

Figures & data

Figure 1 Representative images of organization of SEPT9 filaments in mammalian cells at different stages of the cell cycle.

Notes: (A) In early anaphase, SEPT9 filaments (red) disassemble and can be observed as punctuated staining in the cytoplasm, as well as more filamentous structures along the plasma membrane. (B) During late telophase, SEPT9 staining is visible as a ring structure along the cleavage furrow, resembling the morphology of budding yeast. (C) In interphase cells, SEPT9 assembles into filaments whose morphology varies between rings and filaments in different cell lines. In MDA-231 cells, both filaments and rings are clearly visible. (D) Schematic representation of septin domains: proline-rich domain (green), polybasic domain (gray), GTPase domain (yellow), SUE domain (orange) and the coiled-coil domain (blue). Images for (A–D) were acquired in Dr Cristina Montagna laboratory at Albert Einstein College of Medicine.
Abbreviation: SUE, septin-unique element.

Table 1 Chromosomal mapping and transcriptional variants of Septin family members

Septin member	Chromosome	bp Mapping on chromosome	Size of genomic locus (bp)	Number of Gencode (version 19) variants
				Coding	miRNA	Antisense	Other
SEPT1	16	chr16:30,389,454-30,394,171	4,718	3	–	–	1
SEPT2	2	chr2:242,254,602-242,293,441	38,840	6	–	1	1
SEPT3	22	chr22:42,372,931-42,394,225	21,295	5	–	1	–
SEPT4	17	chr17:56,597,611-56,606,828	21,295	10	–	4	–
SEPT5	22	chr22:19,701,987-19,710,845	8,859	4	–	–	1
SEPT6	X	chrX:118,750,909-118,827,333	76,425	8	1	–	1
SEPT7	7	chr7:35,840,596-35,946,715	106,120	7	1	–	1
SEPT8	5	chr5:132,091,695-132112980	26,559	8	–	–	1
SEPT9	17	chr17:75,277,492-75,496,674	219,187	15	2	2	1
SEPT10	10	chr2:110,303,626-110,343,400	71,410	7	–	–	1
SEPT11	4	chr4:77,870,895-77,959,768	88,874	5	–	–	1
SEPT12	16	chr16:4,827,615-4,838,522	10,908	2	–	–	1
SEPT14	7	chr7:55,861,237-55,930,482	69,246	1	–	–	1
Total			724,896	81	4	8	11

Abbreviations: bp, base pairs on chromosome; miRNA, micro-ribonucleic acid.

Figure 2 Representation of the crystal structure of the SEPT7, SEPT2, and SEPT2 complex.

Notes: The 25 nm septin-filament length comprises a hexamer assembled via direct interaction of the SEPT7, SEPT2, and SEPT2 trimer. The arrows represent the presumed orientations of the C-terminal ends. Reprinted with permission from Macmillan Publishers Ltd: Sirajuddin M, Farkasovsky M, Hauer F, et al. Structural insight into filament formation by mammalian septins. Nature. 2007;449:311–315. © Copyright 2007.³¹

Figure 3 Plotting of frequency (y-axis) of copy-number alterations (CNAs) observed in cancer patients analyzed as part of the Cancer Genome Atlas (TCGA).

Notes: Members of the septin family of genes are color-coded as indicated on the right. Tumor histologies are indicated on the x-axis. Breast dataset;⁴⁵ colorectal dataset;⁴⁶ lung carcinoma;^47,48 uterine carcinoma.¹³⁴ Provisional data have been plotted by searching the CBioPortal for Cancer Genomics.^128,135

Figure 4 Plotting of mutation frequency (y-axis) observed in cancer patients analyzed as part of the Cancer Genome Atlas (TCGA).

Notes: Members of the septin family of genes are color-coded as indicated on the right. Tumor histologies are indicated on the x-axis. Breast dataset;⁴⁵ colorectal dataset;⁴⁶ lung carcinoma;^47,48 uterine carcinoma.¹³⁴ Provisional data have been plotted by searching the CBioPortal for Cancer Genomics.^128,135

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