1. Shreya Menon, Morton Laboratory, Brigham and Women’s Hospital
Investigating the molecular basis for infertility associated with abnormality in a novel candidate gene, SYCP2
Shreya Menon,
Morton Laboratory,
Brigham and Women’s Hospital

2. Developmental Genome Anatomy Project (DGAP)
Cellular and Animal Models
Database Mining for gene function
DNA
Patient
WGS jumping library
Identify rearrangement breakpoints
Sequence across breakpoints
Identify candidate genes
Database mining for gene function
Animal and cellular models
S. Schilit

3. DGAP 230
nl20 der(20) nl22 der(22)
Oligospermia in a 28 year old caucasian male
Presented with a two-year history of infertility
Sperm count: <2 million/ml
No other dysmorphic features; normal stature
Normal endocrine profile
Normal semen volume
No Y chromosome deletion in the AZF regions and negative for CFTR mutations
S. Schilit

4. SYCP2: synaptonemal complex protein 2
SYCP2 overexpression
Defects in meiosis
Disruption in spermatogenesis
Low sperm count/ oligospermia
Adapted from Tsai et al., 2011 and Davies, 2012; S. Schilit

5. Circularized Chromosome Conformation Capture (4C) Assay
Adapted from Gheldof, 2012 and Klein, 2015

6. chr20
der(20)
Add title

7. High H3K4me1:H3K4me3 signature suggests enhancer activity in this region
The enhancer peaks are concordant with DNase hypersensitive regions identified by DNase ChIP-seq on human testis tissue

8. Thank you!
Samantha Schilit, MA Dr. Cinthya Zepeda Mendoza Dr. Cynthia Morton Morton Lab at Brigham and Women’s Hospital Harvard Undergraduate Research and Fellowships