Muscleblind Like Splicing Regulator 1 (MBNL1) is an
RNA splicingprotein that in humans is encoded by the MBNL1gene.[5][6][7] It has a well characterized role in
Myotonic dystrophy where impaired splicing disrupts muscle development and function.[8] In addition to regulating mRNA maturation of hundreds of genes MBNL1 (along with its paralogs MBNL2 & MBNL3) autoregulate alternative splicing of the MBNL1 pre-mRNA transcript.[9] The founding member of the human MBNL family of proteins was the Drosophila Muscleblind protein (PMID 9334280).
Human MBNL1 is an alternative
splicing regulator that harbors dual function as both a
repressor and
activator for terminal muscle differentiation.[10] The repressive function of Human MBNL1 by sequestering at normal
splice sites has been shown to lead to RNA-splicing defects that lead to muscular diseases.[11] The gene can be alternatively spliced into multiple functionally distinct isoforms, some of which linked to be involved in cancer biology.[12]
Human MBNL1 is a 370 amino acid
protein[13] composed of four Zinc Finger protein domains of the CCCH type linked in tandem.[10] The MBNL1 protein specifically binds to double stranded CUG
RNA expansions.[14] The Zinc Finger domains play a role in both protein:protein contacts as well as RNA:protein contacts when bound to an
oligonucleotide.[10]
^Tchaicheeyan O (2007). Biophysical characterization of the 117 amino acids long N-terminal segment of D-Raf (Isoform A) (Thesis). Iowa State University.
doi:10.31274/rtd-180813-16211.
Kino Y, Mori D, Oma Y, Takeshita Y, Sasagawa N, Ishiura S (March 2004). "Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats". Human Molecular Genetics. 13 (5): 495–507.
CiteSeerX10.1.1.598.7921.
doi:
10.1093/hmg/ddh056.
PMID14722159.
Cardani R, Mancinelli E, Rotondo G, Sansone V, Meola G (2007). "Muscleblind-like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2". European Journal of Histochemistry. 50 (3): 177–82.
PMID16920640.
Muscleblind Like Splicing Regulator 1 (MBNL1) is an
RNA splicingprotein that in humans is encoded by the MBNL1gene.[5][6][7] It has a well characterized role in
Myotonic dystrophy where impaired splicing disrupts muscle development and function.[8] In addition to regulating mRNA maturation of hundreds of genes MBNL1 (along with its paralogs MBNL2 & MBNL3) autoregulate alternative splicing of the MBNL1 pre-mRNA transcript.[9] The founding member of the human MBNL family of proteins was the Drosophila Muscleblind protein (PMID 9334280).
Human MBNL1 is an alternative
splicing regulator that harbors dual function as both a
repressor and
activator for terminal muscle differentiation.[10] The repressive function of Human MBNL1 by sequestering at normal
splice sites has been shown to lead to RNA-splicing defects that lead to muscular diseases.[11] The gene can be alternatively spliced into multiple functionally distinct isoforms, some of which linked to be involved in cancer biology.[12]
Human MBNL1 is a 370 amino acid
protein[13] composed of four Zinc Finger protein domains of the CCCH type linked in tandem.[10] The MBNL1 protein specifically binds to double stranded CUG
RNA expansions.[14] The Zinc Finger domains play a role in both protein:protein contacts as well as RNA:protein contacts when bound to an
oligonucleotide.[10]
^Tchaicheeyan O (2007). Biophysical characterization of the 117 amino acids long N-terminal segment of D-Raf (Isoform A) (Thesis). Iowa State University.
doi:10.31274/rtd-180813-16211.
Kino Y, Mori D, Oma Y, Takeshita Y, Sasagawa N, Ishiura S (March 2004). "Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats". Human Molecular Genetics. 13 (5): 495–507.
CiteSeerX10.1.1.598.7921.
doi:
10.1093/hmg/ddh056.
PMID14722159.
Cardani R, Mancinelli E, Rotondo G, Sansone V, Meola G (2007). "Muscleblind-like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2". European Journal of Histochemistry. 50 (3): 177–82.
PMID16920640.