Category: Genetics


http://hubblesite.org/gallery/album/nebula/pr2005012b/As I said last week, the Jarnian Confederation acts only to prevent Human-occupied planets from preying on each other or on other sentient species, or to provide emergency aid. But it needs some structure to do this. The interaction of my characters with this structure provides much of the plot of my fiction.

Originally (and still to a large extent in Homecoming and Tourist Trap) the Confederation as a whole was ruled by the R’il’nai. As their numbers dwindled, the Councils were developed to provide the remaining R’il’nai with information and a part-Human sounding board. Membership was originally determined by tests to determine the fraction of traits R’il’nian-Human hybrids showed that were clearly of R’il’nian origin. Those with over seven-eighths R’il’nian traits were considered part of the Inner Council.

The Outer Council was composed of High R’il’noids, those with more than three-fourths R’il’nian traits, and was primarily an advisory, fact-finding and enforcement body subject to the Inner Council. Those with more than half R’il’nian traits were considered R’il’noid. R’il’noids were essential to the running of the Confederation and were subject to Confederation law but not to planetary law. This was primarily because of problems that had arisen in the past because of planetary laws (such as a ban on travel at the new moon, punishable by death) which prevented R’il’noids from carrying out their professional duties. At that time virtually all adult R’il’noids had the R’il’nian empathy at least to the extent that they could be trusted not to take advantage of their immunity to planetary law.

R’il’nian-human hybrids were rare, is spite of official encouragement for R’il’nian males to father offspring from Human or R’il’noid women. Such matings were often sterile. A R’il’nian scientist, Çeren, developed an in vitro fertilization method that greatly increased the production of crossbreds, and also developed a more objective method of ranking R’il’noids by the fraction of active R’il’nian-derived genes. The unintended consequences of both these developments (which were desperately needed at the time) set up the problems in my science fiction.

By the time of Homecoming the Inner Council was actually making most of the decisions to run the Confederation, though the only surviving R’il’nian, Lai, had absolute veto power at least in theory, though he rarely if ever used it. Barring that veto power, the Inner Council was ruled by a majority vote providing at least 5/6 of the Inner Council members were present and voting. Reconsideration of a vote already taken required a 2/3 plus majority. By the time of the trilogy veto power no longer exists, and this is how the Confederation is ruled and the Horizon War was started.

Horse Color Genetics Index

Color genetics is a long-time hobby of mine, and I’ve written a number of posts about the genes that determine color and pattern in horses. I also have an extensive website on genetics and coat color in dogs.

Horse Color Genetics Index

The Basic Colors of Horses 10/31/10
Palomino Genetics 11/06/10
Pearl: a Palomino Complication 11/14/10
Dun: a Wild-Type Dilution Gene in Horses 11/21/10
The Agouti and Extension Loci in Horses 11/27/10
Champagne: Another Dilution Gene in Horses 12/5/10
Silver Dapple – Another Dilution Gene in Horses 12/12/10
Two Rare Dilutions and a Summary of Dilution Genes in Horses 12/19/10
The Genetics of White on Horses 12/27/10
The Grey Gene in Horses 1/3/11
The Roan Gene in Horses 1/9/11
Other Patterns of White Hair in Horses 1/17/11
White Body Markings on Horses 1/24/11
The Tobiano Gene in Horses 1/31/11
Sabino Spotting in Horses 2/6/11
The Frame Gene in Horses 2/14/11
The Splashed White Gene in Horses 2/28/11
Horse Colors: Manchado and Brindle 3/7/11
White Horses 3/20/11
The Leopard Gene in Horses 3/29/11
The Leopard Gene in Horses (Continued) 4/2/11
The Leopard Gene in Horses Part 3 4/10/11
The Leopard Gene in Horses 4 4/17/11
Horse Color Genetics: Darkening Genes 4/24/11
Horse Color Summary 1 5/1/11
Horse Color Genetics, Final Summary 5/8/11

Other Posts to do with Horses

The Horses of Homecoming 4/17/10
Obstacle Racing (Homecoming Glossary) 6/26/10
A Circus Horse with no Circus 7/11/10
Tourist Trap: What’s It About? 8/16/11

Here are links to all of the posts I would count as science, including those that explain how I use science in my science fiction. This list will be updated as new science posts are added. (Note that some posts listed under “Health” or “Technology” may also be of interest.)

The Science Behind Homecoming 4/2/10
Why do we have Weather? 4/24/10
Precession – Astronomy and Milankovitch 5/6/15
The Four Horsemen of the Apocalypse 6/12/10
Why Planets Have Seasons 6/24/10
Full of Sound and Fury (Fireworks) 7/3/10
Tricycles are not Bicycles 8/8/10
Planet Building 8/15/10 – 10/24/10
Racemization 9/2/10
Equinoxes and Daylight Savings 9/23/10
Horse Color Genetics 10/31/10 – 5/8/11
R’il’nai, Humans and Crossbreds: Life Span 12/11/10
Conservation Laws of Energy and Teleportation 12/20/10
Winter Solstice 12/22/10
Mass into Energy 12/24/11
Momentum and Teleportation 1/1/11
Snowflakes 1/7/11
Ice Fog: Ground Level Contrails 1/25/11
The Planets of Tourist Trap: Eversummer 3/6/11
Earthquakes, Tsunamis and Volcanoes 3/13/11
Why 12-Hour Days Already? 3/19/11
Ice Sculpture: Ice and Sun 3/26/11
More on Ice Melting 3/27/11
Why Temperatures Remembered Don’t Match the Record 4/5/11
When It’s Springtime in Alaska 4/8/11
Twilight 4/12/11
How High the Moon? 4/15/11
Breakup 4/16/11
The Cambrian Explosion 4/22/11
How Did We Learn to Walk? 4/29/11
Back to the Water 5/6/11
Where did the First Plants Come from? 5/13/11
The Geophysical Institute 5/15/11
Alaskan Mosquitoes 5/19/11
Colored-Leaf Geraniums 5/20/11
Early History of the Geophysical Institute 5/22/11
The Fairbanks Flood of 1967 5/29/11
Before Computers 6/5/11
Ice Ages and Alaska 6/17/11
Cumulus Clouds and Cloud Streets 6/24/11
Plate Tectonics Part I 7/1/11
Plate Tectonics Part II 7/8/11
Plate Tectonics Part III 8/5/11
Frost Hollows 8/19/11
Be Careful What You Ask For 8/27/11
Autumn Colors 9/10/11
Thermometers in Fairbanks 9/17/11
Junk Mail and Plants 9/20/11
The Chimney Sweep 9/22/11
Lights, Batteries, Temperatures? 9/24/11
How Dry I Am 10/15/11
Keeping Windows Dry 10/22/11
Snowflakes 10/29/11
The Alaskan Mesozoic 11/1/11
Mesozoic Alaska Part 2 8/11/11
Alaskan Mesozoic 3 11/15/11
Death of Blue Babe 11/17/11
Nightlength Sensitivity in Houseplants 12/10/11
Our Sense of Smell 12/17/11
What Time of Day is Warmest? 12/31/11
Alaska Winter Weather: Cordova and Nome 1/14/12
Inversions and Smokestacks 1/28/12
January Wasn’t Warm in Alaska 2/4/12
Fog, Fog, Fog 2/11/12
Oceanography DVD Review 2/14/12
Snow Festoons 2/18/12
Disturbance Hardening of Snow 3/24/12
Cold-Packed Snow and White Ice 3/31/12
Tornadoes and Climate Change 4/7/12
Breakup Season 4/14/12
Ice Jam Floods 4/21/12
Calories and Weight 5/5/12
Battery Woes 5/12/12

500+ posts is too many for me to keep track of, and quite a few are “reference” posts, such as the ones on planet building or horse coat color genetics. So I’m putting in a new feature, an index page that links to posts linking to the posts on a given topic. (Sound confusing? Try doing it!)

These indexing posts start today (see below) and will appear occasionally until the reference posts are all indexed. After that I’ll just be updating the index posts, which will be accessible from the Index tab above.

With 550 posts as of today, I’ve started to have problems remembering what I’ve already put on here. This is particularly a problem with posting existing content such as poems, short pieces from the Summer Arts Festival, or science explanations originally written for the Alaska Science Forum. I can’t remember which books or DVDs I’ve posted reviews on. It also is starting to be a problem when I want to link to a previous post and can’t remember when it was put up or what the title was. And there are posts on this blog that have permanent information, like the series on planet building and the one on horse color genetics, or the book and DVD reviews. I want to make it easier for my readers as well as myself to find things.

I made a start some time ago by adding an index page, which can be accessed from the menu at the top of any page. Right now, the only links are to index pages on my author site. This takes you out of the site and sometimes back in, which is rather clumsy. The index list is also incomplete.

I’m going to start posting an occasional entry which is strictly an index of past posts on a particular topic. These posts will be linked from the index page, and will link forward to the individual blog posts. As it takes a while to find all the posts that belong together, this will be a slow process—probably extending over the next few months. The first in this series, on DVD reviews, is already queued for January 3. Others will follow, most on Thursdays.

I probably won’t be indexing every post. Some, like those early posts which were simply glossary entries for my books, are on the author site and really belong there. Others, like the regular Monday updates on North Pole weather starting in November 2010, can be found easily enough just by using the calendar on the site. But I hope that by the time I have finished this, older posts of interest will be easier to find.

Colored-Leaf Geraniums

Just about everyone is familiar with geraniums (really pelargoniams) grown primarily for flowers. Single or double, one-color or centered with white, they may be any shade of red, white, pink salmon or lavender. Some have scented leaves – rose, peppermint, lemon, and strawberry, among others. My favorites are the colored-leaf varieties.

Colored leaves occur when a mutation prevents part or all of a leaf from producing chlorophyll, the pigment that allows a plant to use the energy of sunlight to transform water and carbon dioxide into carbohydrates, releasing oxygen as a toxic by-product.

A mutation normally takes place in a single cell. If that cell is dividing, the daughter cells will have the same mutation. In the case of a geranium (or any genetically variegated plant) the critical tissue is what is called the meristem, found at the growing tips of the plant. Meristem cells are to a plant what stem cells are to an animal. If a mutation takes place in the meristematic tissue of a plant, and the mutation is such that chlorophyll production is inhibited in part of the leaf, the whole part of the plant that grows from that apex will show the same patterning. Where chlorophyll is absent, the plant will show whatever other pigments are present—usually carotenoids (red to yellow) and anthocyanins (red to blue.)

P. S, in my original post I missed some geranium colors.

Shoots that have less chlorophyll are less vigorous, but as long as they have some chlorophyll, they can be rooted to produce healthy plants. Back mutations do occur, and a colored-leaf plant will suddenly start growing a green branch. These green branches must be removed, as they are naturally the most vigorous and will take over if given a chance.

One thing I have found with several colored-leaf geraniums is that if light levels are low, as is the case during Alaskan winters, the variegation tends to disappear. When the light returns, so does the variegation. Unless, of course, a cell in a growth tip has mutated back to the green form. Then, as variegation returns to most of the plant, a few branches continue to have new green growth.

This happened to the plant in the photograph. It’s now had the two major green branches removed, and I hope new growth from the remaining branches with their white-centered leaves will remain variegated.

Last week we reviewed the base color and dilution loci. Today we will do a final review of the interspersed white hair and white marking genes, along with the darkening genes. Although the blog series will end today, links will be put on my author site to all of the posts in the series.

There are two main loci responsible for interspersed white hair. These are Grey (born dark with white hairs becoming more numerous with age) and Roan (born roan with white hairs constant or decreasing with age.)

The Grey locus is the syntaxin-17 (STYX17) locus on equine chromosome 25. It causes an initial increase in melanocytes  followed by their depletion. There are two alleles at this locus: grey and wild-type, with gray being incompletely dominant. (Horses with two copies of the grey allele lighten faster than horses with one grey and one wild-type allele, are less likely to develop a fleabitten appearance, and are more likely to develop melanomas with age.) At this time the progression of graying (dark vs. light mane and tail) and the color of dark hair (usually black, but some individuals become rose grey, with the dark hair remaining red) are not known to be subject to genetic control. In any case the final result is a mostly white horse.

The Roan locus is close enough to the Extension locus that there is significant linkage. It is considered part of the KIT linkage group on equine chromosome 3. There are two alleles: roan (dominant) and wild-type. At one time possession of two roan alleles was thought to be lethal, but this has now been shown not to be true. Classic roan causes interspersed white hairs on the body, but the legs, mane and tail normally remain dark. The frosty pattern, in which the mane and tail are also affected, may be a variant of roan, but the genetic mechanism is at present unknown. Scars commonly lack white hair, causing dark corn marks.

Spotting loci are far more numerous, and some produce roaning as well as white areas.

Minor spotting genes may be responsible for white facial and leg markings. These genes are present in most breeds, and facial and leg white tend to increase in tandem. Animals with wide blazes and no white on the legs, or with high stockings and plain faces are very often minimally marked animals with one of the other spotting genes.

The Tobiano locus is closely associated with the KIT locus, and hence on equine chromosome 3. There are two known alleles, tobiano and wild-type, with tobiano being an incomplete dominant. Generally tobianos are crisply marked, with white crossing the topline. Legs are normally white and the face is plain or has minor markings. Minimal tobianos may have high stockings with plain faces; in the maximal pattern only the head may be colored. Roan or colored spots known as paw prints may occur in white areas on animals with two tobiano alleles. There is a dominant modifier which in the presence of both tobiano and cream produces what is called a calico pattern—the yellow of the buckskin or palomino is broken up, with some areas being red.

The Frame locus is on equine chromosome 17, and is at the locus that controls endothelin receptor b (EDNRB.) The alleles are frame and wild-type. The frame allele is lethal in double dose, producing the so-called lethal white foal syndrome, so all frame horses should have one frame and one wild-type allele. The minimal expression of frame is extensive white on the head with colored legs. The maximal extent may have color confined to the topline and legs. The fact that the frame allele still seems sometimes to come out of nowhere need further clarification—a masking gene may also exist.

The sabino pattern is a combination of spotting and roaning, and extremely variable in expression. It may also have more than one genetic explanation. The Sabino-1 locus is part of the KIT complex (equine chromosome 3) and has two alleles, sabino and wild-type. The sabino allele is incompletely dominant over wild-type, as horses with two sabino alleles generally have more white (even to being almost completely white) than horses with one sabino and one wild-type allele. There are other mutations near the KIT locus that cause white spotting, some of which appear to be lethal in double dose.

The Splashed White locus is yet another that seems to be near the KIT locus, though not at it. The locus probably has two alleles, splashed white and wild-type, with splashed white behaving as an incomplete dominant. The minimal effect of splashed white may not be detectable, or the horse may be more extensively marked with white legs, possibly white underbody and generally white on the head, sometimes to the extent that the whole head is white. Splashed white is also associated with deafness.

Manchado is a relatively rare type of spotting found in several breeds in Argentina, though that may be because of the Argentine fascination with coat color. Parts of the body, often including the top of the neck (and mane) are white, often with round colored spots. The genetic basis is unknown.

White with pink skin and dark eyes may be a separate gene, possibly lethal in horses with two white alleles. At the moment, this is somewhat up in the air.

The Leopard locus is the Transient Receptor Potential Cation Channel, Subfamily M, Member 1(TRPM1) locus. It has two alleles, leopard and wild-type, but an enormous array of patterns. Leopard is incompletely dominant over wild-type—horses with two leopard alleles generally have fewer leopard spots than those with one leopard and one wild-type gene, and have a high incidence of night-blindness.

Finally, darkening due to black hair in the coat may occur in at least three forms. Black hair may be scattered throughout the otherwise red parts of the coat, producing a sooty effect. Black tipping on otherwise red hairs appears to be associated with the agouti locus, and produces shaded effects where the back appears darker than the rest of the horse. Actual black striping of the coat, brindle, is rare but documented. Some types of roan, especially sabino, may produce a type of brindle with white stripes. The genetics are unclear in all of these cases.

As a final summary of horse color genetics, let’s go over the loci, what they do, and the alleles at each locus. My primary reference is Sponenberg.

The Agouti locus is widespread in mammals, and is involved with whether and where an animal produces eumelanin (black) or phaeomelanin (red) pigment. The alleles known in horses, listed with the most dominant first, are Wild Bay (Wild-type), Bay, Seal Brown and black. Agouti is hypostatic to Extension, meaning that the effects of the agouti alleles can be seen only if the extension gene allows the animal to produce both eumelanin and phaeomelanin. Note that at this locus, the redder the color, the more dominant.

The Extension locus is the same as the melanocortin receptor one locus, or MC1R. Like agouti, it influences whether eumalin or phaeomelanin gets into the coat and occurs in most mammals. The alleles are dominant black (still not confirmed), wild-type, and chestnut. This locus may also have genetic control over the depth of black tipping. Only wild-type and tipping allow the agouti genes to show. In this series, more black is dominant over more red. Extension is epistatic to agouti.

Agouti and extension determine the base color of the horse—bay, brown, black or chestnut.

The various dilution genes generally affect phaeomelanin and eumelanin differently, coarse and fine hair differently, and not uncommonly are associated with patterns of dilution.

The Dun locus has two alleles. Wild-type is dun and is dominant over non-dun, but the wild type is rare in many breeds. When present, dun dilutes both black and red pigment on the body, but the degree of dilution varies a great deal. Head, legs, mane and tail are generally much less affected than is the central body, and dorsal stripes almost always occur. “Zebra stripe” markings often occur on legs and the shoulder region. The center of the mane may remain light.

The Cream locus is also known as the membrane-associated transporter protein (MATP) locus. It probably has three alleles: Wild-type, pearl, and cream. The dominance hierarchy here is complex. A horse with two wild-type alleles is normal color. A horse with one wild-type and one pearl allele looks normal color except for slightly lighter skin. A horse with two pearl alleles will have red lightened to gold and black lightened to beige. A horse with one cream allele and one wild-type allele will have red lightened to gold and black lightened only very slightly. A horse with one cream and one pearl allele will have red lightened to pale cream or ivory and black lightened to beige. Finally, a horse with two cream alleles will be a very pale color, as red lightens to cream and black to a slightly dirty white.

The Champagne locus is the SLC36A1 locus. It has two alleles: Champagne (dominant) and wild-type. Champagne dilutes red to gold and black to brown or tan. The mane and tail are generally diluted less than is the body.

The Silver Dapple locus is the pre-melanosomal protein 17 (PMEL17) locus. It has two alleles, silver (dominant) and wild-type. The silver allele dilutes black strongly but has little or no effect on red. The allele also produces very strong dilution in mane, tail and lower legs, at times producing horses that appear black with white manes and tails. Far commoner are horses with a blue to chocolate body, often heavily dappled, with distinctly lighter manes and tails. At one time common primarily in ponies.

The Mushroom locus has not yet been located. Two alleles are suspected, wild-type (dominant) and mushroom (recessive.) Mushroom horses resemble silver dapples, but lack dappling and have tested chestnut at the extension locus.

Arab dilution is another possible locus. This is believed to be a recessive allele with a strong lightening effect on black but little or no effect on red. Both Mushroom and Arab dilution are very rare.

I will summarize patterns of white, including grey and roan, next week.

Not all horses with the leopard gene have blankets of any size, and not all have spots. The gene can also produce two specific types of roaning, called frost and snowflake.

These roan patterns are quite separate from that produced by the roan gene, which becomes less prominent with age and leaves head, legs, mane and tail dark. The leopard gene produces horses which are normally colored or at most have a few white hairs over the rump at birth, but develop roaning (frost) or scattered white spots (snowflake) as they age. In contrast to grey, the pattern eventually stabilizes rather than producing a pure white horse.

In frost, the roaning tends to be most prominent over the hips. So-called varnish marks are common — areas where the bones are close to the surface, such as the hipbones and nasal bones, retain pigment while the rest of the coat is roaned. An aged varnish roan may be almost white except for these varnish marks.

Snowflakes are small white spots scattered randomly over the body, but often most numerous and prominent on the front part of the horse. They tend to become larger and more numerous with age, until in extreme cases the horse appears white with colored specks. This gives what is often called a speckled pattern, not to be confused with flea-bitten grey. Note that not all of the photos shown at the link are true snowflakes — the term is used very loosely.

Both types of roan may be combined with any of the blanket or spotting patterns, or may occur alone. Figure 8.140 in Sponenberg is a beautiful example of a combination of snowflake, varnish roan, blanket and leopard spotting all on the same horse. (Put Figure 8.140 on the search inside field.) Since the leopard gene can produce any of these effects, alone or in combination, breeding leopard-pattern horses can lead to some interesting results.

The remaining named horse in Tourist Trap, Amber’s mount Splash, is a bay varnish roan with a small spotted blanket, in color rather like the horse in Figure 8.141. He’s a gelding, about 14.1 hands – just enough smaller than the other four to have problems with fords. Roi has seen only solid colored horses on Central, and his first look at Splash gives this impression:

“Amber’s [horse], a little bay roan with curious dark lines on its nose, looked less exotic until it turned as she halted it.  Then it became apparent that it had a large white area, punctuated by dark bay spots, over its hips.”

I may summarize the equine color loci and alleles next week with links back to where they are mentioned, but I have covered most of the known color genes in horses. That doesn’t mean more won’t be found!

Not all horses with white markings produced by the Leopard gene are leopards. The white markings are generally symmetrical and present at birth, but they vary a great deal from horse to horse and may even be absent entirely. The minimal expression is white over the top of the rump, and the broad term for the pattern is blanket.

Edges of the white blanket may be crisp, flecked or roaned.

Sponenberger divides the white patterns by percent of white at birth. The modification I am using in Tourist Trap is:

10% or less white spots over hips
10% to 20% lace blanket
20% to 40% hip blanket
40% to 60% body blanket
60% to 80% near leopard
90% to 100% leopard

Note that “leopard” in this table includes both leopard and few-spot leopard, and that the size of the blanket has nothing to do with whether spots are present. If one copy of the leopard allele and one of the wild-type allele are present, whatever white areas are on the horse will normally have spots of the base color. If two copies of the leopard allele are present, the white markings will have few or no spots, and the pattern is often called snowcap or few-spot.

The Pattern-1 gene is heavily implicated in the amount of white, but it is almost certainly not the only modifier.

Spots will normally be of the base color, but may show a concentration or dilution of color. Thus they may appear darker or lighter that the base color.

The description of Roi’s horse, Raindrop, in Tourist Trap is that of a body-blanketed grulla approaching a near-leopard. She has white coronets and spots significantly darker than most of her body, which is already dark for a grulla. Roi’s first sight of her gives the following description:

“One of the two led horses had a black-spotted white body, but its neck, legs and chest were a dark mouse gray, set off by a black head and mane and a black and white tail.” Raindrop is later referred to as having a sparse mane (black) and being the color of polished slate. The dark dorsal stripe typical of duns would have been in the white-blanketed area, and hence invisible.

Genetically, she would have had two recessive black alleles at the Agouti locus, at least one wild-type allele at the Extension locus, at least one dun allele at the Dun locus, and one leopard and one wild-type allele at the TRPM1 locus.

Next week I’ll talk about the roan, flecked and snowflake patterns produced by the Leopard gene. Again, these patterns are often called Appaloosa in the United States, but they occur in horses worldwide.

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