ZBTB48: Difference between revisions

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{{infobox gene}}
{{infobox gene}}
'''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]].<ref name="Li_2017">{{cite journal | vauthors = Li JS, Miralles Fusté J, Simavorian T, Bartocci C, Tsai J, Karlseder J, Lazzerini Denchi E | title = TZAP: A telomere-associated protein involved in telomere length control | journal = Science | volume = 355 | issue = 6325 | pages = 638–641 | date = February 2017 | pmid = 28082411 | doi = 10.1126/science.aah6752 }}</ref><ref name="Jahn_2017">{{cite journal | vauthors = 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 | title = ZBTB48 is both a vertebrate telomere-binding protein and a transcriptional activator | journal = EMBO Reports | volume = 18 | issue = 6 | pages = 929–946 | date = June 2017 | pmid = 28500257 | pmc = 5452029 | doi = 10.15252/embr.201744095 }}</ref> In humans it is encoded by the ''ZBTB48'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: Zinc finger and BTB domain containing 48 | url = https://www.ncbi.nlm.nih.gov/gene/3104 }}</ref>
'''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]].<ref name="Li_2017">{{cite journal | vauthors = Li JS, Miralles Fusté J, Simavorian T, Bartocci C, Tsai J, Karlseder J, Lazzerini Denchi E | title = TZAP: A telomere-associated protein involved in telomere length control | journal = Science | volume = 355 | issue = 6325 | pages = 638–641 | date = February 2017 | pmid = 28082411 | doi = 10.1126/science.aah6752 | pmc=5518674}}</ref><ref name="Jahn_2017">{{cite journal | vauthors = 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 | title = ZBTB48 is both a vertebrate telomere-binding protein and a transcriptional activator | journal = EMBO Reports | volume = 18 | issue = 6 | pages = 929–946 | date = June 2017 | pmid = 28500257 | pmc = 5452029 | doi = 10.15252/embr.201744095 }}</ref> In humans it is encoded by the ''ZBTB48'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: Zinc finger and BTB domain containing 48 | url = https://www.ncbi.nlm.nih.gov/gene/3104 }}</ref>


Loss of ZBTB48 has been shown to lead to telomere elongation both in cells with long<ref name="Li_2017" /> and short telomeres.<ref name="Jahn_2017" /> In addition, overexpression of ZBTB48 in cancer cells maintaining their telomeres based on the [[Alternative Lengthening of Telomeres|Alternative Lengthening of Telomeres (ALT)]] mechanism leads to trimming of telomeres.<ref name="Li_2017" /> Beyond its telomeric function, ZBTB48 acts as a [[Transcription factor|transcriptional activator]] on a small set of target genes, including mitochondrial fission process 1 ([[MTP18|MTFP1]])<ref name="Jahn_2017" /> and [[CDKN2A]].<ref>{{cite journal | vauthors = Yoon JH, Choi WI, Jeon BN, Koh DI, Kim MK, Kim MH, Kim J, Hur SS, Kim KS, Hur MW | title = Human Kruppel-related 3 (HKR3) is a novel transcription activator of alternate reading frame (ARF) gene | journal = The Journal of Biological Chemistry | volume = 289 | issue = 7 | pages = 4018–31 | date = February 2014 | pmid = 24382891 | pmc = 3924269 | doi = 10.1074/jbc.M113.526855 }}</ref> 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<ref>{{cite journal | vauthors = Maris JM, Jensen SJ, Sulman EP, Beltinger CP, Gates K, Allen C, Biegel JA, Brodeur GM, White PS | title = Cloning, chromosomal localization, physical mapping, and genomic characterization of HKR3 | journal = Genomics | volume = 35 | issue = 2 | pages = 289–98 | date = July 1996 | pmid = 8661141 | doi = 10.1006/geno.1996.0359 }}</ref><ref>{{cite journal | vauthors = Maris JM, Jensen J, Sulman EP, Beltinger CP, Allen C, Biegel JA, Brodeur GM, White PS | title = Human Krüppel-related 3 (HKR3): a candidate for the 1p36 neuroblastoma tumour suppressor gene? | journal = European Journal of Cancer | volume = 33 | issue = 12 | pages = 1991–6 | date = October 1997 | pmid = 9516840 }}</ref><ref>{{cite journal | vauthors = White PS, Maris JM, Sulman EP, Jensen SJ, Kyemba SM, Beltinger CP, Allen C, Kramer DL, Biegel JA, Brodeur GM | title = Molecular analysis of the region of distal 1p commonly deleted in neuroblastoma | journal = European Journal of Cancer | volume = 33 | issue = 12 | pages = 1957–61 | date = October 1997 | pmid = 9516832 }}</ref>, but not without dispute.<ref>{{cite journal | vauthors = Bauer A, Savelyeva L, Claas A, Praml C, Berthold F, Schwab M | title = Smallest region of overlapping deletion in 1p36 in human neuroblastoma: a 1 Mbp cosmid and PAC contig | journal = Genes, Chromosomes & Cancer | volume = 31 | issue = 3 | pages = 228–39 | date = July 2001 | pmid = 11391793 | doi = 10.1002/gcc.1139 }}</ref>
Loss of ZBTB48 has been shown to lead to telomere elongation both in cells with long<ref name="Li_2017" /> and short telomeres.<ref name="Jahn_2017" /> In addition, overexpression of ZBTB48 in cancer cells maintaining their telomeres based on the [[Alternative Lengthening of Telomeres|Alternative Lengthening of Telomeres (ALT)]] mechanism leads to trimming of telomeres.<ref name="Li_2017" /> Beyond its telomeric function, ZBTB48 acts as a [[Transcription factor|transcriptional activator]] on a small set of target genes, including mitochondrial fission process 1 ([[MTP18|MTFP1]])<ref name="Jahn_2017" /> and [[CDKN2A]].<ref>{{cite journal | vauthors = Yoon JH, Choi WI, Jeon BN, Koh DI, Kim MK, Kim MH, Kim J, Hur SS, Kim KS, Hur MW | title = Human Kruppel-related 3 (HKR3) is a novel transcription activator of alternate reading frame (ARF) gene | journal = The Journal of Biological Chemistry | volume = 289 | issue = 7 | pages = 4018–31 | date = February 2014 | pmid = 24382891 | pmc = 3924269 | doi = 10.1074/jbc.M113.526855 }}</ref> 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<ref>{{cite journal | vauthors = Maris JM, Jensen SJ, Sulman EP, Beltinger CP, Gates K, Allen C, Biegel JA, Brodeur GM, White PS | title = Cloning, chromosomal localization, physical mapping, and genomic characterization of HKR3 | journal = Genomics | volume = 35 | issue = 2 | pages = 289–98 | date = July 1996 | pmid = 8661141 | doi = 10.1006/geno.1996.0359 }}</ref><ref>{{cite journal | vauthors = Maris JM, Jensen J, Sulman EP, Beltinger CP, Allen C, Biegel JA, Brodeur GM, White PS | title = Human Krüppel-related 3 (HKR3): a candidate for the 1p36 neuroblastoma tumour suppressor gene? | journal = European Journal of Cancer | volume = 33 | issue = 12 | pages = 1991–6 | date = October 1997 | pmid = 9516840 | doi=10.1016/s0959-8049(97)00279-7}}</ref><ref>{{cite journal | vauthors = White PS, Maris JM, Sulman EP, Jensen SJ, Kyemba SM, Beltinger CP, Allen C, Kramer DL, Biegel JA, Brodeur GM | title = Molecular analysis of the region of distal 1p commonly deleted in neuroblastoma | journal = European Journal of Cancer | volume = 33 | issue = 12 | pages = 1957–61 | date = October 1997 | pmid = 9516832 | doi=10.1016/s0959-8049(97)00311-0}}</ref>, but not without dispute.<ref>{{cite journal | vauthors = Bauer A, Savelyeva L, Claas A, Praml C, Berthold F, Schwab M | title = Smallest region of overlapping deletion in 1p36 in human neuroblastoma: a 1 Mbp cosmid and PAC contig | journal = Genes, Chromosomes & Cancer | volume = 31 | issue = 3 | pages = 228–39 | date = July 2001 | pmid = 11391793 | doi = 10.1002/gcc.1139 }}</ref>


== References ==
== References ==
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{{refbegin | 2}}
{{refbegin | 2}}
* {{cite journal | vauthors = Ruppert JM, Kinzler KW, Wong AJ, Bigner SH, Kao FT, Law ML, Seuanez HN, O'Brien SJ, Vogelstein B | title = The GLI-Kruppel family of human genes | journal = Molecular and Cellular Biology | volume = 8 | issue = 8 | pages = 3104–13 | date = August 1988 | pmid = 2850480 | pmc = 363537 | doi = 10.1128/mcb.8.8.3104 }}
* {{cite journal | vauthors = Ruppert JM, Kinzler KW, Wong AJ, Bigner SH, Kao FT, Law ML, Seuanez HN, O'Brien SJ, Vogelstein B | title = The GLI-Kruppel family of human genes | journal = Molecular and Cellular Biology | volume = 8 | issue = 8 | pages = 3104–13 | date = August 1988 | pmid = 2850480 | pmc = 363537 | doi = 10.1128/mcb.8.8.3104 | url = http://nsuworks.nova.edu/cgi/viewcontent.cgi?article=1137&context=cnso_bio_facarticles }}
* {{cite journal | vauthors = Sugawara M, Scholl T, Ponath PD, Strominger JL | title = A factor that regulates the class II major histocompatibility complex gene DPA is a member of a subfamily of zinc finger proteins that includes a Drosophila developmental control protein | journal = Molecular and Cellular Biology | volume = 14 | issue = 12 | pages = 8438–50 | date = December 1994 | pmid = 7969177 | pmc = 359383 | doi = 10.1128/mcb.14.12.8438 }}
* {{cite journal | vauthors = Sugawara M, Scholl T, Ponath PD, Strominger JL | title = A factor that regulates the class II major histocompatibility complex gene DPA is a member of a subfamily of zinc finger proteins that includes a Drosophila developmental control protein | journal = Molecular and Cellular Biology | volume = 14 | issue = 12 | pages = 8438–50 | date = December 1994 | pmid = 7969177 | pmc = 359383 | doi = 10.1128/mcb.14.12.8438 }}
* {{cite journal | vauthors = Maris JM, Jensen SJ, Sulman EP, Beltinger CP, Gates K, Allen C, Biegel JA, Brodeur GM, White PS | title = Cloning, chromosomal localization, physical mapping, and genomic characterization of HKR3 | journal = Genomics | volume = 35 | issue = 2 | pages = 289–98 | date = July 1996 | pmid = 8661141 | pmc =  | doi = 10.1006/geno.1996.0359 }}
* {{cite journal | vauthors = Maris JM, Jensen SJ, Sulman EP, Beltinger CP, Gates K, Allen C, Biegel JA, Brodeur GM, White PS | title = Cloning, chromosomal localization, physical mapping, and genomic characterization of HKR3 | journal = Genomics | volume = 35 | issue = 2 | pages = 289–98 | date = July 1996 | pmid = 8661141 | pmc =  | doi = 10.1006/geno.1996.0359 }}

Latest revision as of 14:22, 4 November 2018

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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[1] and short telomeres.[2] 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.[1] Beyond its telomeric function, ZBTB48 acts as a transcriptional activator on a small set of target genes, including mitochondrial fission process 1 (MTFP1)[2] 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]

References

  1. ↑ 1.0 1.1 1.2 Li JS, Miralles Fusté J, Simavorian T, Bartocci C, Tsai J, Karlseder J, Lazzerini Denchi E (February 2017). "TZAP: A telomere-associated protein involved in telomere length control". Science. 355 (6325): 638–641. doi:10.1126/science.aah6752. PMC 5518674. PMID 28082411.
  2. ↑ 2.0 2.1 2.2 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 (June 2017). "ZBTB48 is both a vertebrate telomere-binding protein and a transcriptional activator". EMBO Reports. 18 (6): 929–946. doi:10.15252/embr.201744095. PMC 5452029. PMID 28500257.
  3. ↑ "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 (February 2014). "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. doi:10.1074/jbc.M113.526855. PMC 3924269. PMID 24382891.
  5. ↑ Maris JM, Jensen SJ, Sulman EP, Beltinger CP, Gates K, Allen C, Biegel JA, Brodeur GM, White PS (July 1996). "Cloning, chromosomal localization, physical mapping, and genomic characterization of HKR3". Genomics. 35 (2): 289–98. doi:10.1006/geno.1996.0359. PMID 8661141.
  6. ↑ Maris JM, Jensen J, Sulman EP, Beltinger CP, Allen C, Biegel JA, Brodeur GM, White PS (October 1997). "Human Krüppel-related 3 (HKR3): a candidate for the 1p36 neuroblastoma tumour suppressor gene?". European Journal of Cancer. 33 (12): 1991–6. doi:10.1016/s0959-8049(97)00279-7. PMID 9516840.
  7. ↑ White PS, Maris JM, Sulman EP, Jensen SJ, Kyemba SM, Beltinger CP, Allen C, Kramer DL, Biegel JA, Brodeur GM (October 1997). "Molecular analysis of the region of distal 1p commonly deleted in neuroblastoma". European Journal of Cancer. 33 (12): 1957–61. doi:10.1016/s0959-8049(97)00311-0. PMID 9516832.
  8. ↑ Bauer A, Savelyeva L, Claas A, Praml C, Berthold F, Schwab M (July 2001). "Smallest region of overlapping deletion in 1p36 in human neuroblastoma: a 1 Mbp cosmid and PAC contig". Genes, Chromosomes & Cancer. 31 (3): 228–39. doi:10.1002/gcc.1139. PMID 11391793.

Further reading

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