The Splashed White Gene in Horses

A revised version of this post is here.

Splashed white is another spotting gene in horses. It resembles tobiano in that the pattern is usually crisp-edged, and there is no tendency for the kind of uneven roaning often seen in sabino. Splashed white is more common in Europe than in North America, but is becoming common in Paints.

Although genetic information is not availabe, the markings on this palomino (and the blue eyes) are consistant with the splash white pattern. Photo courtesy of Wendy Retzer.

The best description of splashed white is that the horse looks as if it had been dipped feet-first in white paint with its head lowered. Minimal white markings may not be recognized as due to a spotting gene. The next stage includes a blaze that widens toward the muzzle and may extend up the sides of the head, white extending above the knees and hocks, and possibly a belly spot. With stronger grades of spotting the entire head is often white, as well as the entire underbody, and eventually only the ears may retain pigment. Eyes are usually blue or have blue chips. Splashed white can be confused with very crisp sabino markings without roaning, but sabino-1, at least, can be identified through genetic testing.

Splashed white appears to be associated with deafness in horses, though many splashed whites have normal hearing.

Splashed white is believed to be due to a dominant or incompletely dominant gene, though the wide range of patterns produced by this gene makes genetic studies difficult. At the present time, a DNA test for this gene is not available. There is conflicting evidence as to whether this pattern is associated in any way with the KIT locus.

Breast Cancer 3: Mammograms.

I meant to cover radiation therapy this week, but I was tripped up by a blizzard. With 18 inches of fresh snow in the driveway, I couldn’t get out for the mammogram (X-ray of the breasts) scheduled Monday, and the radiation oncologist needed that before he saw me Thursday. I wound up getting the mammogram Friday, and have a new appointment with the radiation oncologist next Thursday. I hope I can get a photo of the radiation machine to use with the blog next week.

Business all over Fairbanks sponsor ice carvings as winter outdoor sculpture. The hospital imaging center has this skier, complete with goggles.

There are two types of mammograms: screening (to see if anything looks suspicious enough to look further) and diagnostic (once something else looks suspicious or worse.) Once you’ve been diagnosed with breast cancer, all the mammograms are diagnostic.

Three years ago, I got a diagnostic mammogram (which confirmed my doctor had indeed felt a lump), a biopsy (which involved shooting a sampler into my breast) to confirm that the lump was cancerous, and then surgery to remove the lump and the “sentinel node”—the lymph node most likely to be cancerous itself. If the sentinel node had been positive, all of the lymph nodes would have been removed. I was lucky; my sentinel node test was negative. But since I had chosen a lumpectomy rather than a full mastectomy, I had to follow chemotherapy up with radiation therapy.

Mammograms are uncomfortable but not really painful. Nipples and scars are marked with band-aid-like beads and tape with a metallized line. You stand next to the machine, your breast is squeezed between two plates, and when you are positioned to the technician’s liking you are told to hold you breath for a couple of seconds while the x-ray is taken. Generally they take one picture with the breast squeezed horizontally and one with it squeezed vertically. I think the most uncomfortable part of the process is getting my arms, chin, shoulders and ears out of the way and holding them there. I always finish a mammogram with a stiff neck.

They don’t have to develop film any more. The mammogram comes right up on a computer screen, and can be read at once. When I had mine done Friday, a couple of whitish areas showed up on the good breast, which led to a repeat of the X-rays with a different and smaller compressed area, and a few moments of worry on my part. Turned out to be calcium deposits that had been there all along. And this time I was told to come back next year, instead of 6 months from now.

I still wish Roi (one of my Homecoming characters) was real.

Science Fiction and Fantasy Trivia

Thursday: “Then the white-furred thing ran right past him—and as it ran, it spoke. It said, ‘Run, you fool!’” De Chancie. Context?
From Castle Perilous. Gene has gotten lost (he thinks) in an underground parking garage. From there I’ll quote:
“It was large, maybe seven, eight feet, walked on two legs and was covered head to foot with silky white fur. Oh, and the head. The head was smallish, but the mouth was not, agleam with razor-edged teeth and curved three-inch fangs. Bone-white claws tipped its fingers. Its shoulders were almost as broad as the beast was tall, and from them hung long sinewy arms. But with all that bulk, it was fast. And it was coming toward him.
…
“As the beast neared, the glow from the jewel-torch fired its eyes, luminescent yellow agates. An alien intelligence burned within them, fierce, cruel and unhuman.
“The sound of the hell-beast shook the passageway.
“But the white-furred thing ran right past him, and as it went by, it spoke.
“It said, “’Run, you fool.’”

Friday: “Fear can make anyone a tyrant.” Mercedes Lackey. Context?
The Book is Exile’s Valor. The conversation? Just after Selenay has forced the Council to approve her marriage to Prince Karathanelan. “She was afraid,” Talamar said into the silence. “Fear can make anyone a tyrant.”
…
“She was afraid that if she didn’t force this through, now, she would lose him, you mean,” Myste said.

Saturday: “He could almost put his hand between the color and the cloth.” C.L.Moore. Context?
From the old short story, “Scarlet Dream,” originally published in 1934 and republished in 1961 in Northwest Smith. The description is of a shawl with a vivid and complex scarlet pattern on a background of twilight blue clouded with violet and green. The shawl becomes a gateway to another world, one of both beauty and horror.

Sunday: “There is a time to speak in hyperbole and a time to frame words to the limit of a narrow edge.” Bramah. Book?
The book is Kai Lung Unrolls His Mat, by Ernest Bramah. The only problem with tweeting random sentences from this is that most of the sentences are too long! Originally written in the late 1920’s, it was republished in 1974 as part of the Ballentine Adult Fantasy series. Definitely a book to be read slowly and savored, but probably not to the taste of those who read quickly.

Monday: “It does seem like a great deal of bother to spare Kelson today simply so he can be killed later.” Kurtz. Context?
From near the beginning of Deryni Rising. Ian is speaking to Charissa, the Deryni sorceress, as they discuss the assassination of Kelson’s father, Brion.

Tuesday: “A prudent man doesn’t give either a priest or a woman the opportunity to scold him in public.” Eddings. Context?
From Pawn of Prophecy. Barak is explaining to Garion why he does not want to walk past the temple.

Wednesday: “would have been easier if the Genetics Board had not insisted that she bear his child.” Bowling. Context?
From Homecoming. Derik is half-wishing Vara had not been forced by the Genetics Board to have his child, but he cannot regret the child.

Fairbanks Weather, 2/21/11

Sunrise at 8:29 am, sunset at 5:41 pm for 9 hours 12 minutes of daylight. Still gaining about 6 min 48 seconds a day, and the sun is a healthy 15 degrees above the horizon at noon. We’re even starting to get sunrise in the east southeast, and sunset to the west southwest, instead of having the sun rise and set in the south. It’s starting to feel more like the middle latitudes.

The snowstake. Note that the 3 at the top is feet, so if you figure 3" on top of the (buried) 2' marker, we have about 27" on the ground. The mound of snow is all that still shows of the wind spinner. Picture taken through the window, as there's no way I can stand up in this stuff!

We finally got a proper snowstorm, though it was a little late in the season. I went to bed last night with snow falling but very little accumulation, and woke up snowed in. We got about 10” added to the snowpack last night. Probably not much water content, but it’s excellent insulation. I just hope it didn’t come too late to keep buried pipes from freezing.

I had an appointment for a mammogram this morning (cancer follow-up) but had to postpone it for a week, as there is no way I’m going to get out of the driveway until the bobcat comes by tonight. But a while ago the sun was shining and while the trees are swaying, there’s not much evidence of blowing snow at ground level. The snow, however, is flecked with dark bits of leaf and twig blown from the trees.

Statistics? I don’t have the data yet for the storm total, but we tied or broke the daily records for both snowfall (6.7”) and precipitation (.31”) yesterday, most of which must have been late evening. Guess I’ll stay home and work on Tourist Trap today!

Reading in the Dark

Each year in February, when the days are getting longer but the snow has no thought of melting, the Fairbanks Association for the Arts holds a writers’ workshop, Writing in the Dark. This year it was February 19, and the facilitator was Peggy Shumaker, the Alaska Writer Laureate.

Peggy is the passion behind the Creative Writing program at the Fairbanks Summer Arts Festival (SAF), which I’ve been attending for years. Last summer I invited students to post their work as comments on this blog, and I am doing the same thing for Writing in the Dark. Attendees, just put in whatever you want to share as comments, and I’ll approve them as soon as I get the notification.

Lunch. That's Peggy Shumaker in the center. Any other identification are welcome.

We started the way we always start the first day at SAF: spend 5 minutes talking to the person next to you and then introduce him or her to the group. We had the usual mix of writing instructors, people who struggle to find an hour or two to write (not excluding the writing instructors) people who weren’t at all sure they could write, people who wrote regularly, and even some published authors.

Then Peggy handed out two 1-page essays: “What I Could Eat” by Brenda Miller, and “The Boy Who Couldn’t Conform” by Jim Heynen. Our initial assignment was to come up with writing prompts from reading these two essays. I have problems reading my own notes (and the acoustics of the room did not help) but some of the ideas from the first essay were:

Write a scene within a scene
Describe a day with intense emotion below the surface
Use food to talk about an emotion without saying what that emotion is
Write something with movement
Thoughts may not follow what you see (and describe)
Write about a time when you understood what motivated another person, but a person with you did not (Corollary—suppose you were quite wrong?)
Visiting a place that evokes deep emotions
Use sensory images

Most of the atendees, after lunch. I'm third from the left, and Peggy's in the center. Help in identification is welcome!

We didn’t discuss the prompts each of us got from the second essay, but the one I used (I will put my piece in as a comment) was that a person’s outer behavior may appear quite different from what that person is experiencing inwardly.

Peggy also handed out a book, A Measure’s Hush, by Alaskan poet Anne Coray, and asked us to find a line from one of the poems and use it as a prompt.

The rest of the day we wrote, shared our writings and commented on each others’ work. Toward the end we discussed editing and publishing problems.

I’ll put what I managed to write in the comments. I hope mine aren’t the only pieces there!

Breast Cancer (Part 2)

As I mentioned last week, my primary concern was that my treatment for breast cancer had as little impact as possible on my diabetic control while having maximum effect on the cancer. I was well aware that chemotherapy would involve stress, and any kind of stress affects blood sugar. So when the oncologist gave me a choice of two types of chemotherapy drugs, I chose the milder but slower regime, 5-FU plus Methotrexate.

It was a mild regime in the sense of minimal side effects, but I had to get an infusion weekly for close to 5 months. And even with this regime I was warned that there was a good chance of nausea, losing my hair or anemia.

Luckily, I could get the infusions in Fairbanks, within driving distance of my home, and between the cancer center and VanTran I had a good chance of getting a ride if I got too sick to drive.

Remember I said that the diabetes actually helped me deal with the breast cancer diagnosis? It wasn’t all psychological. One of the things I have learned in my years of trying to keep my blood sugar under control is that I have to have regular exercise. I’m not much good at walking any more, but I have an exercise bike, a rowing machine and a treadmill all set up facing my television. About the only time I watch TV or a DVD without exercising at the same time is when my blood sugar is dangerously low.

I kept that up throughout the chemotherapy, with at least an hour a day of aerobic exercise. (I have an adult tricycle, too, but I didn’t ride that much the summer I was getting chemo.)

I honestly think that continuing to exercise throughout chemotherapy and radiation treatment had a lot to do with how few side effects I had. It may be that I was simply lucky, that I would have had few side effects from the chemo regardless. I can’t help but believe that some of my generally good health throughout the chemo was due to the fact that I continued regular exercise.

Having the rather large needles inserted into my hand was painful and annoying, especially as they always used the hand on the unoperated side, but I never had to have a shunt. Even my hair, while thinning, stayed on my head. I had to get blood tests before every session, and my white and red cell counts did get low enough I had to get some shots to build my blood back up, but I never really felt sick. I lost some weight I could well afford to lose, though unfortunately it didn’t stay off.

Most of the summer and early fall of 2008 I was driving to the cancer center every week for chemo. I did stretch the space between appointments once, to attend a family reunion. I’m glad I did, as it was my last chance to see two of my aunts, both then in their 90’s, who passed on a few months later.

I’ll talk next week about the radiation therapy.

Note—the Sunday blog would normally be about the genetics of the white splash gene in horses, but February 19 is Writing in the Dark, a writers’ conference held annually here in Fairbanks. Instead of the normal horse genetics, I’ll be blogging on the conference next Sunday. I’ll also encourage attendees to put samples of their writing at the conference up as comments. Our leader and inspiration will be Peggy Shumaker, our state writer laureate, and I’m really looking forward to it.

Scifi and Fantasy Trivia #IAN

Thursday: “It was no fun for him if I did not scream and beg.” – Sherri Tepper. Book and context?

The book is Jinian Footseer. The context is Jinian’s discovery as a child that her sadistic brother would leave her alone once she decided she didn’t care what he did to her.

Friday: “To drink the dose at the first intermission, drift away into death with glorious music accompanying her—” Lackey. Context?

Fire Rose. Rose (the “Beauty” of this retelling of Beauty and the Beast) is close to despair before her journey to the west coast, but the thought of hearing Caruso sing makes her decide to postpone her half-planned suicide.

Saturday: “You know the sort of kind heart: it made him uncomfortable more often than it made him do anything … “ Tolkien. Story?

“Leaf by Niggle,” a short story in Tree and Leaf. This has nothing to do with Middle-Earth, and in fact Tolkien wrote of the time it was being composed (1938-9): “At that time they had reached Bree, and I had then no more notion than they had what had become of Gandalf or who Strider was; and I had begun to despair of surviving to find out.” Kudos to Larry Enright who recognized Niggle.

Sunday: “CAROLINA CONGRESSMAN COPS BEAUTY CROWN.” Heinlein. Book and context?

Methuselah’s Children. Started as a short story in Astounding, 1941 and was expanded to a 35 cent paperback book in 1960. The quote is from a series of newspaper headlines allegedly published in 1969, during “the crazy years” according to Heinlein’s future history timeline.  Some of the others are:
COURT ORDERS STATE HOUSE SOLD
IOWA RAISES VOTING AGE TO FORTY-ONE
N. Y. YOUTH MEET DEMANDS UPPER LIMIT ON FRANCHISE
LOS ANGELES HI-SCHOOL MOB DEFIES SCHOOL BOARD

Monday: “They knew they were doomed, but they did the right thing anyway, trying to make the world a little better.” Duane. Context?

The Door into Fire. This is a part of Herewiss’s last conversation with the Goddess.

Tuesday: “There is no one right way.” Lackey. How many different places can you find this?

This is the Valdemarian credo, and it is all over the Valdemar series. I copied it from Exile’s Valor, when the court was trying to prepare for Selany’s wedding.

Wednesday: “She had forgotten a lot about planets, Marna decided less than a day after returning to Riya.” Bowling. Context?

From Homecoming. Marna has spent her last two centuries on an isolation satellite, and is not at all used to being rained on (literally) or in fact any kind of weather.

North Pole Weather

Valentine’s day. Sunrise this morning was at 8:53 am; sunset will be at 5:18 pm, for a day length of 8 hours 23 minutes. We’re now gaining 6 m 48 sec a day, and the gain is pretty uniform through the rest of February. The sun is 12.3 degrees above the horizon at solar noon (1:05 pm for most of the month) and gaining about .3 degrees (a little less than half its diameter) each day. Sun on snow was painfully bright yesterday.

We’ve had a cold spell–43 below yesterday–but that’s nowhere near record-setting for this time of year. The forecast is cold again tonight, but increasing clouds and warming later in the week. It’s not good weather for the Yukon Quest mushers, with Eagle Summit just ahead.

Indoors, the cactus is blooming and the seed catalogs are calling their siren song. I hear them, but I’m going to have to ignore them in favor of editing Tourist Trap.

The Frame Gene in Horses

A later version of this post, updated with new photos, can be found here.

Frame is another type of spotting gene in horses, formerly lumped into overo and sometimes called frame overo. It has nothing to do with the KIT locus, unlike tobiano and sabino-1.

Frame involves patterns of white which do not usually include roaning, though frame may occur in conjunction with other genes that cause roaning. In frame, the white areas tend to be arranged horizontally on the sides of the horse, and almost never cross the back. Frame is also almost the only pattern in which the legs remain pigmented, though normal leg markings may occur.

Like all spotted horses, frame horses may vary from mostly colored to predominantly white. A frame horse will almost always have a wide blaze or bald face, and an apparently unspotted horse with a bald face but no white leg markings is likely to be a minimally marked frame. As the white expands the head may become mostly white and the white areas on the sides may expand to cover most of the horse, with the spine and legs being the last areas to lose color.

Frame is due to a single allele, frame, at a locus called endothelin receptor b (EDNRB) on equine chromosome 17. The locus has two known alleles, frame and wild-type. Frame horses, some of which are so minimally marked as to look solid, have one frame and one wild-type allele.

Breeding two frame horses together may produce lethal white foals, with two frame alleles. Such foals are born white, and the part of their nervous systems that control the lower intestinal tract does not develop properly. They normally die within 72 hours of birth, though most are euthanized as soon as they are recognized. Most breeders avoid mating two frame horses together in order to avoid the production of such foals.

The frame allele can be tested for. Such testing has demonstrated that some genetically frame horses appear to be solid colored. Whether this is due to a suppressor gene or genes or is simply the extreme end of random variation of amount of white is unknown.

I do not have a good photo of a frame horse, but many of the web sites linked to have good examples. Note that many have more than one spotting gene, and some look as if splash (to be discussed next week) might be present..

Breast Cancer (Part 1)

Fairbanks Cancer Center

A breast cancer diagnosis is a downer—no question about that! I think the doctor who had to give me the news that my biopsy was positive was expecting—well—hysteria? Horror at mutilation? Panic at the C-word?

I’ve lived with diabetes for more than 40 years. Of course I was unhappy at the diagnosis, but the prospect of losing a breast worried me far less than the prospect of losing my vision or legs, and I’d lived with both for years. As for fear of cancer, I was already aware that breast cancer, caught early, is one of the most treatable of cancers. And mine was caught early.

Yes, I was worried—I am still worried—about the possibility of recurrence, of metastasis. (I have a mammogram and a follow-up visit with the oncologist a week from now.) But the lump in my breast was caught early, in a regular visit to my doctor’s office. (As a diabetic on an insulin pump, Medicare requires that I see my doctor every three months.) After my doctor found the lump I had what would have been my annual mammogram a couple of months early. The mammogram led to a biopsy, which was positive. Surgery was indicated. (Not that I didn’t wish Roi’s Healing ability was real.)

Because my cancer had been caught early, I had a choice of mastectomy (removal of the affected breast) or lumpectomy followed by radiation therapy. Being lopsided didn’t bother me, but the possibility of surgery affecting the diabetes did. I chose right through to go for the options that might take longer, but would have minimal impact on the diabetes. For surgery, that meant a lumpectomy followed by radiation therapy.

I expected to be miserable after the surgery, but compared to a knee replacement a couple of years earlier it was a breeze. I don’t think I even used the pain prescriptions after the first day or two. I did have a drain, and that was the major annoyance connected with the surgery. I needed to raise my basal insulin for a few days, but aside from that my insulin pump kept my diabetes under control very nicely.

I think my main problem came from the fact that I had two oncologists, one for the radiation therapy and the other for chemotherapy, and they weren’t communicating very well. There was some question as to whether or not I needed chemotherapy, the genetic makeup of my tumor, and which should go first. They finally got it sorted out that chemotherapy should come first.

One thing I should say at this point. Fairbanks Memorial Hospital added a cancer center not too long before I was diagnosed. Before that, I would have needed to go to Anchorage, 350 miles of mountain roads away, for either chemotherapy or radiation therapy. As it was, my therapy was within driving distance of my home.

I’ll get into the post-operative therapy next week. For now, I’ll just say that the diagnosis really woke me up to my own mortality. It was the final push that determined me to go ahead with assisted self-publication for Homecoming. Maybe if I had really kept at it I could have found an agent or a publisher. Certainly the book has garnered some fine reviews and is currently a finalist in one contest. But the cancer diagnosis was the final push.

A few breast cancer links:
Breast Cancer Organization
National Institute of Health
Susan G. Koman Foundation
National Cancer Institute
National Breast Cancer Foundation
Breast Cancer Detection Center of Alaska
Fairbanks Cancer center