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TGIFLY

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Y-linked transforming growth factor- beta-induced factor 2 is protein which is in humans encoded by gene TGIFLY on chromosome Y. Cytogenetic location is: Yp11.2, and genome coordinates (GRCh38): Y: 3,579,066–3,580,040 (according to NCBI, OMIM:400025)

Yp11.2/Xq21.3 is a human-specific homolog block that forms the largest common region among sex chromosomes, extending to about 3.5 Mb. Two transcribed sequences were mapped in this segment: the cadherin|protocadherin genes PCDHX (300246) and PCDHY (400022) and the X-linked poly (A) -binding protein PABPC5 gene (300407), whose Y-homolog was lost during human evolution. Blanco-Arias et al. (2002) reported on the genomic structure, expression, and evolutionary conservation of the third (X-Y homologous) transcribed sequence mapped to this region and labeled TGIFLX (300411)/TGIFLY for TGIF-like X/Y. Genes contain homeodomains that belong to the TALE superclass gene family (amino acid loop extension).

One 2011 study found that TG-interaction factors (TGIFs) belong to family domain homeodomain and TALE, including human TGIF1, TGIF2, and TGIFLX/Y. Both TGIF1 and TGIF2 act as transcription factors that suppress TGF-β signaling. Human TGIFLX and its ortholog, Tex1 in mice, are X-bound genes that are expressed only in the testes of adults. TGIF2 was formed by duplication from TGIF1, while TGIFLX was formed by retrotransposition to chromosome X. These genes have not been characterized in any non-eutheric mammal. Therefore, they studied the TGIF family in the Tamar kangaroo (Monotremata) to investigate their role in the reproduction and how and when these genes were able to evolve their functions and chromosomal locations.

The results obtained show that both TGIF1 and TGIF2 were present in the tamar genome in [autosomes], but TGIFLX was absent. Tamar TGIF1 shares a similar pattern of expression during embryogenesis, sexual differentiation and in adult tissues as well as TGIF1 in euthermal mammals, suggesting that it is functional conserved. Monotremata's TGIF2 was ubiquitously expressed during early development, as in humans and mice, but in adults, it was expressed only in the gonads and spleen, more as a pattern of expression of human TGIFLX and mouse Tex1. Tammar TGIF2 mRNA was specifically detected in round and elongated [spermatids]. mRNA has not been detected in mature sperm. TGIF2 protein was specifically located in the cytoplasm of spermatids, and in the remaining body and central part of the tail of mature sperm. These data suggest that marsupial TGIF2 may participate in spermatogenesis, as TGIFLX acts in Eutheria. TGIF2 was first detected in the ovary with mRNA produced in granular and thecal cells, suggesting that it may also play a role in folliculogenesis .

The authors conclude that limited and very similar expression of marsupial TGIF2 with X-linked paralogs in eutherias suggests that the evolution of TGIF1, TGIF2, and TGIFLX in them was accompanied by a change from ubiquitous to tissue-specific expression. The distribution and localization of TGIF2 in adult gonads suggests that there was an ultra-conserved function for the TGIF family in fertility and that TGIF2 already functioned in spermatogenesis and potentially folliculogenesis long before retrotransposition in chromosome X of the eutherian mammals. These results also provide additional evidence that the eutheric chromosome X was actively recruited sex- and reproduction-related genes during mammalian evolution.[1]

Cloning and expression[edit]

By the RT-PCR analysis, Blanco-Arias et al. (2002) found that both X- and Y- linked genes similar to TGIF are specifically expressed in adults testes. By cloning and sequencing the homologues TGIFLX in hominoida and Old World Monkeys, they found evidence for open reading frame in eight studied species. Deletion one base pair in human TGIFLY (compared to TGIFLX) created a different reading framework, missing the C-terminal residues shared by TGIFLX and others TGIF proteins. Overall, the findings suggest that TGIFLX / Y has a transcriptional role in the testes.[2]

Gene structure[edit]

Blanco-Arias et al. (2002) found that the TGIFLX/Y gene has mRNA of 2,666 bp encoded by two exons and separated intron by 96 bp.

Mapping[edit]

Amplifications from X-linked YACs, Blanco-Arias et al. (2002) mapped the TGIFLY gene on the chromosome region Yp11.2.

Reference[edit]

  1. Yanqiu Hu 1, Hongshi Yu, Geoff Shaw, Marilyn B Renfree, Andrew J Pask (2011): Differential roles of TGIF family genes in mammalian reproduction. BMC Dev Biol, 11:58: pmid: 21958027; pmcid: pmc3204290; doi: 10.1186/1471-213x-11-58.
  2. Blanco-Arias, P., Sargent, C. A., Affara, N. A. The human-specific Yp11.2/Xq21.3 homology block encodes a potentially functional testis-specific TGIF-like retroposon. Mammalian Genome 13: 463-468, 2002. PubMed: 12226713



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