Children's Medical Center Corporation

The United States of America, as Represented by the Secretary, Department of Health and Human Services

The Brigham and Women's Hospital, Inc.

Suneet Agarwal

Anjana Rao

Mamta Tahiliani

Kian Peng Koh

Aravind Iyer

Baris Boyraz

Neha Nagpal

Yick Fong

Diane Moon

Matthew Segal

The present invention provides for novel methods for regulating and detecting the cytosine methylation status of DNA. The invention is based upon identification of a novel and surprising catalytic activity for the family of TET proteins, namely TET1, TET2, TET3, and CXXC4. The novel activity is related to the enzymes being capable of converting the cytosine nucleotide 5-methylcytosine into 5-hydroxymethylcytosine by hydroxylation.

Selective oxidation of 5-methylcytosine by TET-family proteins

The present invention provides for novel methods for regulating and detecting the cytosine methylation status of DNA. The invention is based upon identification of a novel and surprising catalytic activity for the family of TET proteins, namely TET1, TET2, TEM3, and CXXC4. The novel activity is related to the enzymes being capable of converting the cytosine nucleotide 5-methylcytosine into 5-hydroxymethylcytosine by hydroxylation.

The disclosure relates to compounds that are, e.g., PAP Associated Domain Containing 5 (PAPD5) inhibitors and methods of use thereof.

PAPD5 inhibitors and methods of use thereof

The disclosure relates to treating and diagnosing telomere diseases, and methods of screening agents for treating and diagnosing telomere diseases.

Modulators of telomere disease

The present invention provides for methods of epigenetic analysis. In some cases, the methods may include obtaining a sample comprising a nucleic acid sequence. In some cases, the nucleic acid sequence may comprise one or more epigenetic marks. The methods may include performing a sequencing. The methods may include distinguishing a hydroxymethylated base from a methylated base.

Methods of epigenetic analysis

The present invention provides methods for performing an imaging method to detect a moiety associated with labeled hydroxymethylated bases in nucleic acid sequences, such as detecting a moiety associated with glucosylated 5-hydroxmethylated cytosines.

Methods for identifying hydroxylated bases

Compositions comprising glucosylated hydroxymethylated bases

Provided herein are methods and kits for distinguishing 5-hydroxymethylcytosine from 5-methylcytosine.

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Belmont, MA, United States of America

Suneet Agarwal