POLYMER GENOMICSchr16·hg38·90.3 Mb
Atlas
Open chr16 in viewer Chromosome 16
The duplication-rich chromosome: where segmental repeats breed structural chaos and the most common trisomy in human miscarriage hides in plain sight.
Physical Properties
Length90.3 Mb
Centromeremetacentric
p-arm36.3 Mb
q-arm52.1 Mb
GC content44.7%
Genomic Features
Protein-coding genes873
Gene density9.7 / Mb
CpG islands12,890
EPIC v2 probes37,095
Notable
Largest geneCDH8 (1.1 Mb)
Disease associations
Alpha-thalassemia
Tuberous sclerosis
Hereditary diffuse gastric cancer
· Contains the alpha-globin cluster at 16p13.3
· Highest gene density of any chromosome (~25 genes/Mb)
· inv(16) CBFB-MYH11 defines core binding factor AML
Genomic Architecture
Segmental duplication hotspot — Enriched in the gene-poor pericentromere, with blocks of >98% identity mediating recurrent NAHR.
Fragile sites — FRA16D (16q23.2, within WWOX) is the second most active common fragile site in the human genome. FRA16A at 16p13.11.
WWOX gene — Spans >1.11 Mb with a massive 780-kb intron containing FRA16D. Functions as tumor suppressor and metabolic regulator.
Evolutionary History
Synteny — Mouse synteny distributed across chromosomes 7, 8, 16, and 17, indicating multiple fissions since the ~87 Mya ancestor.
Deep conservation — Alpha-globin cluster syntenic with flanking genes for >500 My. In most non-primate mammals, alpha- and beta-globin are on the same chromosome; separation occurred in the primate ancestor.
Deep Cuts
Most common lethal trisomy — Trisomy 16 is the single most frequent chromosome abnormality in miscarriages, yet no liveborns with the full form exist — an "invisible killer."
PKD1 pseudogene confusion — Six pseudogenes sharing ~97% identity with exons 1-33 made PKD1 one of the most difficult genes to sequence accurately for decades.
CBFB-MYH11 spatial paradox — CBFB and MYH11 are ~50 Mb apart, yet form the inv(16) fusion — farther apart than any other intrachromosomal rearrangement pair. Their 3D nuclear proximity in hematopoietic stem cells enables this.
§ Deep dive