ZBTB48 explained

Zinc finger and BTB domain containing 48 (ZBTB48), also known as telomeric zinc-finger associated protein (TZAP), is a protein that directly binds to the double-stranded repeat sequence of telomeres.[1] [2] In humans it is encoded by the ZBTB48 gene.[3]

Loss of ZBTB48 has been shown to lead to telomere elongation both in cells with long and short telomeres. In addition, overexpression of ZBTB48 in cancer cells maintaining their telomeres based on the Alternative Lengthening of Telomeres (ALT) mechanism leads to trimming of telomeres. Beyond its telomeric function, ZBTB48 acts as a transcriptional activator on a small set of target genes, including mitochondrial fission process 1 (MTFP1) and CDKN2A.[4] ZBTB48 localizes to chromosome 1p36, a region that is frequently rearranged (leiomyoma & leukaemia) or deleted (neuroblastoma, melanoma, Merkel cell carcinoma, pheochromocytoma, and carcinomas of colon and breast) in different human cancers and therefore might be a putative tumour suppressor,[5] [6] [7] but not without dispute.[8]

Further reading

Notes and References

  1. Jan Karlseder . Li JS, Miralles Fusté J, Simavorian T, Bartocci C, Tsai J, Karlseder J, Lazzerini Denchi E . TZAP: A telomere-associated protein involved in telomere length control . Science . 355 . 6325 . 638–641 . February 2017 . 28082411 . 10.1126/science.aah6752 . 5518674. 2017Sci...355..638L .
  2. Jahn A, Rane G, Paszkowski-Rogacz M, Sayols S, Bluhm A, Han CT, Draškovič I, Londoño-Vallejo JA, Kumar AP, Buchholz F, Butter F, Kappei D . ZBTB48 is both a vertebrate telomere-binding protein and a transcriptional activator . EMBO Reports . 18 . 6 . 929–946 . June 2017 . 28500257 . 5452029 . 10.15252/embr.201744095 .
  3. Web site: Entrez Gene: Zinc finger and BTB domain containing 48 .
  4. Yoon JH, Choi WI, Jeon BN, Koh DI, Kim MK, Kim MH, Kim J, Hur SS, Kim KS, Hur MW . Human Kruppel-related 3 (HKR3) is a novel transcription activator of alternate reading frame (ARF) gene . The Journal of Biological Chemistry . 289 . 7 . 4018–31 . February 2014 . 24382891 . 3924269 . 10.1074/jbc.M113.526855 . free .
  5. Maris JM, Jensen SJ, Sulman EP, Beltinger CP, Gates K, Allen C, Biegel JA, Brodeur GM, White PS . Cloning, chromosomal localization, physical mapping, and genomic characterization of HKR3 . Genomics . 35 . 2 . 289–98 . July 1996 . 8661141 . 10.1006/geno.1996.0359 . free .
  6. Maris JM, Jensen J, Sulman EP, Beltinger CP, Allen C, Biegel JA, Brodeur GM, White PS . Human Krüppel-related 3 (HKR3): a candidate for the 1p36 neuroblastoma tumour suppressor gene? . European Journal of Cancer . 33 . 12 . 1991–6 . October 1997 . 9516840 . 10.1016/s0959-8049(97)00279-7.
  7. White PS, Maris JM, Sulman EP, Jensen SJ, Kyemba SM, Beltinger CP, Allen C, Kramer DL, Biegel JA, Brodeur GM . Molecular analysis of the region of distal 1p commonly deleted in neuroblastoma . European Journal of Cancer . 33 . 12 . 1957–61 . October 1997 . 9516832 . 10.1016/s0959-8049(97)00311-0.
  8. Bauer A, Savelyeva L, Claas A, Praml C, Berthold F, Schwab M . Smallest region of overlapping deletion in 1p36 in human neuroblastoma: a 1 Mbp cosmid and PAC contig . Genes, Chromosomes & Cancer . 31 . 3 . 228–39 . July 2001 . 11391793 . 10.1002/gcc.1139 . 25144352 .

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