Jacob L. Mueller, Ph.D.

Jacob Mueller, Ph.D.

Assistant Professor of Human Genetics
Assistant Professor of Obstetrics and Gynecology
Assistant Professor of Urology

5814 MS II
1241 E. Catherine St.
Ann Arbor, MI 48109


Administrative Contact

Areas of Interest

Why are 1 out of every 6 couples infertile?

When two XY species hybridize, why are the resultant males rare, absent or infertile?

These two apparently unrelated questions motivate our research, which is converging towards a common answer. Our laboratory addresses these questions by studying the genetic and molecular basis of male infertility in the context of evolution.

In support of our approach, evolutionary biologists have observed that male infertility is typically the first barrier to reproductive isolation between two recently diverged species. In cases where the genetic basis of reproductive isolation is understood, the genes share three prominent features; they are rapidly evolving, typically reside on the X chromosome, and are expressed in cells that give rise to sperm. Our lab has identified genomic structures that share these three characteristics, X-amplicons: evolutionarily recent, lineage-specific segmental duplications on the human and mouse X chromosomes that harbor genes expressed almost exclusively during sperm development. Using molecular genetics, development biology, and genomics we are exploring the reproductive functions of X-ampliconic genes, the biological significance of X-amplicon genomic architecture, and the regulation X-ampliconic gene expression during sperm development. Our long-term goal is to translate our studies of X-amplicons into a better understanding of why 1-2% of otherwise healthy men cannot produce sperm.

Honors & Awards

NIH Pathway to Independence Award (K99/R00) 2011-present
Margaret and Herman Sokol Postdoctoral Award 2008
Robert D. Barnes Award, Gettysburg College 2008
NIH Postdoctoral Fellowship 2006-09


Whitehead Institute, MIT, Post-doctoral Fellow 2005-2013
Cornell University, Ph.D. in Genetics and Development 2005
Gettysburg College, B.A. in Biology and Economics 1998

Published Articles or Reviews

Mueller J.L., Skaletsky H., Brown L.G., Zaghul S., Rock S., Graves T., Auger K., Warren W.C., Wilson R.K., Page D.C. Independent specialization of the human and mouse X chromosomes for the male germline. Nature Genetics 45: 1083-1087, 2013.

Mueller J.L., Mahadevaiah S.K., Park P.J., Warburton P.E., Page D.C., Turner J.M. The mouse X chromosome is enriched for multicopy testis genes showing postmeiotic expression. Nature Genetics 40: 794-799, 2008.

Web Sites