Maelstrom gene

The gene Maelstrom, Mael, creates a protein, which was first located in Drosophila melanogaster in the nuage perinuclear structure and has functionality analogous to the spindle, spn, gene class.[1] Its mammalian homolog is MAEL.

Maelstrom
Identifiers
OrganismDrosophila melanogaster
SymbolMael
UniProtQ9VNS0
Search for
StructuresSwiss-model
DomainsInterPro

In Drosophila

Maelstrom helps establish anterior-posterior and dorsal-ventral symmetry by coordinating to the Microtubule-Organizing Center (MTOC)[2] and assists Vasa establish a concentration gradient of Bicaudal D (BicD)[1] in the developing Drosophila oocyte. Similar to other spindle-class genes, maelstrom defects can lead to the failed production of a karyosome.[1] Mael has also been shown to repress microRNA-7 (miR-7), which in turn regulates the Bag-of-marbles (BAM) protein and secures correct germline differentiation.[3]

Short RNAs are well-known to silence TEs (transposable elements) through the RNAi (RNA interference) pathway, and Piwi-associated RNAs (piRNAs) play a crucial role in transposon silencing in the germline. The Maelstrom protein forms a complex with piRISC to silence transposons and therefore stabilize the germline cell genome.[4]

In mammals

A knockout model for MAEL, the mammalian homolog of Drosophila’s Maelstrom, was created by homologous recombination in mice to create Mael null mice. In the knockout mice, meiotic chromosome synapsis is defective. In addition, spermatogenesis fails due to sperm DNA damage caused by the derepression of transposable elements.[5]

MAEL has also recently been associated with human cancer. An experiment showed MAEL expression throughout a majority of cancer cell types, including lung cancer, breast cancer, prostate cancer, and colon cancer and in turn suggests MAEL as a constituent of the cancer/testis gene class.[6]

References
  1. Findley, S. D.; Tamanaha, M.; Clegg, N. J.; Ruohola-Baker, H. (2003). "Maelstrom, a Drosophila spindle-class gene, encodes a protein that colocalizes with Vasa and RDE1/AGO1 homolog, Aubergine, in nuage". Development (Cambridge, England). 130 (5): 859–871. doi:10.1242/dev.00310. PMID 12538514. S2CID 13344310.
  2. Sato, K.; Nishida, K. M.; Shibuya, A.; Siomi, M. C.; Siomi, H. (2011). "Maelstrom coordinates microtubule organization during Drosophila oogenesis through interaction with components of the MTOC". Genes & Development. 25 (22): 2361–2373. doi:10.1101/gad.174110.111. PMC 3222902. PMID 22085963.
  3. Pek, J. W.; Lim, A. K.; Kai, T. (2009). "Drosophila maelstrom ensures proper germline stem cell lineage differentiation by repressing microRNA-7". Developmental Cell. 17 (3): 417–424. doi:10.1016/j.devcel.2009.07.017. PMID 19758565.
  4. Sokolova, O. A.; Yakushev, E. Yu.; Stolyarenko, A. D.; Mikhaleva, E. A.; Gvozdev, V. A.; Klenov, M. S. (2011). "Interplay of transposon-silencing genes in the germline of Drosophila melanogaster". Molecular Biology. 45 (4): 582–590. doi:10.1134/S0026893311030174. S2CID 2574989.
  5. Soper, S. F.; Van Der Heijden, G. W.; Hardiman, T. C.; Goodheart, M.; Martin, S. L.; De Boer, P.; Bortvin, A. (2008). "Mouse maelstrom, a component of nuage, is essential for spermatogenesis and transposon repression in meiosis". Developmental Cell. 15 (2): 285–297. doi:10.1016/j.devcel.2008.05.015. PMC 2546488. PMID 18694567.
  6. Xiao, L.; Wang, Y.; Zhou, Y.; Sun, Y.; Sun, W.; Wang, L.; Zhou, C.; Zhou, J.; Zhang, J. (2010). "Identification of a novel human cancer/Testis gene MAEL that is regulated by DNA methylation". Molecular Biology Reports. 37 (5): 2355–2360. doi:10.1007/s11033-009-9741-x. PMID 19693694. S2CID 20314903.
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