JOVANA
Library Glossary Getting Started Three Levels Fields How it works Mission
Join the mission
Back to the library
Biology 1950

The Origin and Behavior of Mutable Loci in Maize

Barbara McClintock

Genes are not nailed down: some can cut loose and jump to a new place in the genome.

Choose your version
In depth · the introduction

She figured out that genes can jump from place to place in the genome — and she did it by reading the speckles on corn.

The big idea

For the first half of the 20th century, geneticists pictured genes as beads strung at fixed spots along a chromosome — each one staying put for life. Barbara McClintock found that some genetic elements are not fixed at all: they can cut themselves out and reinsert somewhere else. We now call them transposable elements, or "jumping genes."

She uncovered a tidy two-part system in maize. One element, Dissociation (Ds), can lodge inside a gene and switch it off. A second element, Activator (Ac), gives Ds the cue to jump back out. When Ds lands in a colour gene, the kernel turns pale; when Ac later kicks Ds out of a cell, that cell — and every cell that grows from it — switches its colour back on. The result is a kernel dappled with spots and streaks.

How it came about

McClintock was one of the finest cytologists of her generation, able to tell maize chromosomes apart under the microscope and match what she saw to the genetics of colour in the kernel. Working largely alone at Cold Spring Harbor through the 1940s, she noticed that certain genes mutated in strange, patterned bursts, and she traced the pattern back to elements that change position on the chromosome.

She laid out the Ac/Ds system at the 1951 Cold Spring Harbor Symposium. The response was muted — the genetics was dense and the claim, that genes move and regulate one another, ran against everything the field assumed. She kept working but largely stopped publishing this strand by the mid-1950s. Only when other scientists found jumping genes in bacteria and flies in the 1960s and 70s did the field catch up. In 1983 she was awarded the Nobel Prize in Physiology or Medicine — alone, the only woman ever to win that prize unshared.

Why it mattered

It rewrote what a genome is. Instead of a fixed library of genes in fixed slots, the genome turned out to be mobile and restless — full of elements that move, multiply, and switch their neighbours on and off. That reshaped how we think about evolution, mutation, and the regulation of genes during development, and it explains a startling fact discovered later: a large part of our own DNA is made of these mobile elements and their fossils.

A way to picture it

Imagine a light switch (the colour gene) with a wad of gum (Ds) jammed in it so it can't flip on — the light stays off, the kernel stays pale. The Activator is a helper that, partway through the plant's growth, pops the gum out in a few cells. Every cell that gets unjammed glows, and so does every cell that later grows from it — making a patch of colour. Pop the gum early and the patch is large; pop it late and you get only a tiny fleck. The spots on the corn are a timestamp of when each gene jumped free.

An interactive corn kernel. A slider sets the Activator (Ac) dose. With no Activator the kernel is plain pale yellow; add a little and a few large purple sectors appear; add more and the colour breaks up into many smaller, finer spots — because more Activator makes the jumping gene leave later in the kernel's growth.

Where it sits

Mendel showed traits pass down as discrete factors; Morgan's school mapped those genes to fixed places on chromosomes. McClintock added the twist: the places themselves can change. Read alongside the Library's Mendel and Watson–Crick DNA, her work completes a surprising picture — a genome that is not a frozen text but a living, self-rearranging one, the same insight that today's CRISPR genome editing puts to deliberate use.

The original document
Original source text
Barbara McClintock · Proc. Natl. Acad. Sci. USA 36 (1950): 344–355 · Carnegie Institution of Washington, Department of Genetics, Cold Spring Harbor, New York
The question
The paper sets out to explain where "mutable loci" come from — genes that mutate at unusually high rates and in patterned, developmentally timed ways, betraying themselves as flecks and sectors of colour in the kernel and plant. Such unstable loci, McClintock reports, arose repeatedly at predictable places after chromosomes had been put through a cycle of breaking and rejoining.
The breakage–fusion–bridge cycle
She first lays out the cytological machinery she had established earlier: a broken chromosome end fuses with its sister after replication, forms a bridge that is torn apart again at the next division, and so breaks anew — a self-perpetuating cycle that fractures the same region over and over. It was in chromosome 9, repeatedly broken this way, that the new mutable loci kept appearing.
Dissociation (Ds)
At one recurring site she identifies an element she names Dissociation (Ds): it marks the spot where the chromosome breaks. The decisive observation is that Ds does not stay put — across generations of crosses its position changes, and where it lands it can disrupt the genes nearby.
Activator (Ac)
Ds, however, does nothing on its own. Its breakage and movement happen only when a second element — Activator (Ac) — is present, even when Ac sits elsewhere on the chromosome set. Ac is itself mobile, and the paper notes that the amount of Ac matters: changing its dose shifts the timing of Ds's action during development.
Mutable loci and variegation
When such an element comes to rest in or beside a pigment gene, it switches the gene off, giving a colourless background; if the element later leaves a cell, that cell and all its descendants recover the gene's function and make pigment — a clone of coloured tissue. The size of each spot therefore records WHEN the change happened: early events give large sectors, late events give fine speckling. The patterns on the kernel are a direct read-out of genes moving inside living cells.
[ … ]
The conclusion
McClintock concludes that genetic elements are not fixed in place: they can transpose, and in doing so they govern when and where other genes are expressed — what she would soon call "controlling elements." The full argument, built on years of maize genetics and chromosome cytology and running to about a dozen pages of crosses and tables, is available in full at the source below.
Cold Spring Harbor, New York · 1950