The human Y chromosome is a male-specific sex chromosome. Nearly all humans who possess a Y chromosome will be morphologically male. Although the Y chromosome is situated in the cell nucleus, it only recombines with the X-chromosome at the ends of the Y chromosome; the vast majority of the Y chromosome (95%) does not recombine. When mutations (errors in the copying process) arise in the Y chromosome in the form of single-nucleotide polymorphisms) or short tandem repeats, they are passed down directly from father to son in a direct male line of descent. This line is known as the patriline.
The Genome Reference Consortium maintains the reference assembly of the human genome. The GRC tracks issues relating to the Y chromosome such as gaps and errors in the sequence. Details can be found here. The GRCh37 build of the Y chromosome has a length of 59,373,566 base-pairs, but only 25,653,566 base-pairs are actually positioned. Build 38 (GRCh38) was released on 24 December 2013.
- Evolution of the Y chromosome - includes a video
- Nature web focus on the Y chromosome. Has links to a number of important Y chromosome papers including:
- Willard, Huntingdon F. Genome biology: tales of the Y chromosome. Nature 423, 810-813 (19 June 2003).
- Skaletsky H, Tomoko Kuroda-Kawaguchi T, Minx PJ et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423, 825-837 (19 June 2003).
- Hughes JF, Skaletsky H, Brown LG. Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes. Nature 483, 82–86 (01 March 2012).
- Callaway E. The human Y chromosome is here to stay Nature News, 22 February 2012.
- Wilson Sayres MA. Lohmueller KE, Nielsen R. Natural selection reduced diversity on human Y chromosomes. PLoSGenetics 9 January 2014.
- Study dispels theories of Y chromosome's demise. Press release from UC Berkeley, 9 January 2014.
- Wilson Sayres MA. Accessible research: natural selection reduced diversity on human Y chromosomes. Mathbionerd blog, 16 January 2014. A a summary of the paper in layman's terms.
- Notes on: A fresh look at the male-specific region of the human Y chromosome by Melissa Wilson-Sayres, Mathbionerd blog, 2 January 2014.
- The Y chromosome shall not die by Razib Khan, GeneExpression, 4 July 2013.
- Why sex really matters A TED talk by David Page, Director of the Whitehead Institute and Professor of Biology at MIT.
- Announcing CRCH38. GenomeRef blog, 24 December 2013.