by Marina Watanabe
figures by Elayne Fivenson
Hours after giving birth, my sister sent a picture of her newborn baby to our family group text. In what I can only assume was a painkiller-induced haze, she wrote, “The baby looks exactly like me!!!”
The baby did not look exactly like her.
The baby, like all newborn babies, looked exactly like a potato.
This idea of children being “mini mes” of their biological parents is a common conversation piece, and people often joke that the child is a clone of one parent or the other. Despite these jokes, it’s generally understood that it takes two to make a baby (for the most part!!) and that half the baby’s DNA comes from an egg and half from a sperm. But sometimes, a real “mini me” is born with the majority of DNA coming from only one parent.
Family matters
In the Czech Republic, a deaf nine year old child underwent genetic testing to try to pinpoint the cause of the deafness. Apart from the length and width of the patient’s legs slightly differing, there were no features to mark the child as being particularly out of the ordinary. The genetic testing results showed that the patient had two copies of a specific mutation, or alteration, in the genetic code. Interestingly, though, the mutation in question was not thought to cause deafness.
To begin unraveling the mystery of the relationship between the mutation and the patient’s deafness, the doctors tracked the mutation within the family. Classical genetics states that since the patient had two mutant copies of the gene, both parents must also have the mutation and they both must have passed it onto their child. The parents underwent genetic testing and it was determined in a bizarre twist that only the father had the mutation. Before things could derail into a confusing and seemingly impossible game of “Who’s the Mommy?!,” the doctors did further genetic testing to reach a jarring conclusion: The patient’s DNA was almost exclusively from the father. Also, I forgot to mention–the patient is a girl.
How we inherit genetic material from our biological parents
DNA is the instruction manual of what makes you who you are, and it is found in your body in the form of 23 pairs of chromosomes (for a total of 46 chromosomes). You got one set of 23 chromosomes from one parent inside a sperm, and the other 23 from the other parent inside an egg. Because we have two copies of our DNA, humans are what’s known as “diploid” and this is annotated as “2n.” Almost all the cells in your body contain a copy of this full set of 23 pairs of chromosomes you got from your biological parents. The exception are gametes, which are sex cells (sperm or eggs), that only contain 23 chromosomes—not 46. Since they only contain one copy of our genetic information, gametes are 1n instead of 2n.
Normally, the creation of gametes in an adult male or female is very straightforward (Figure 1). For each chromosome, you start with the full set consisting of two copies—one from each parent. Through a process called meiosis, these two chromosomes duplicate themselves (so you end up with four copies of each chromosome) and ultimately split into four gametes containing only one of each chromosome–meaning each gamete contains only half the amount of DNA required for a human. This “halving” process occurs simultaneously across all 46 chromosomes, leading to the production of many gametes containing 23 chromosomes each. After meiosis, a sperm and an egg are then free to combine their incomplete genetic material to create a genetically complete cell known as a zygote. This single-celled zygote is what grows into a new human.
Redefining single parenting
In the case of the nine year old girl, she did not receive the normal half and half ratio of DNA from her parents. Though the doctors were trying to diagnose the cause of her deafness, they instead diagnosed her with genome-wide uniparental disomy or diploidy (GWUPD). In this condition, a person will not inherit 23 chromosomes from one parent each for a total of 46, but will instead inherit almost all chromosomes from one parent. In this way, one person is essentially both biological “mother” and “father” to a child. This is an incredibly rare condition, and as of 2018, only approximately 21 cases have been reported.
A curious feature of GWUPD is the fact that all of the patients affected are girls and women who have inherited mostly their father’s genetic material. The reason why the single genetic parent has thus far always been the father is not yet known due to the fact that the condition is so rare and it is experimentally difficult to understand a process that is taking place in the very early zygote.
Though scientists still do not fully understand GWUPD or its causes, they do have a theory. They believe that, much like in classical zygote formation (Figure 1), a sperm and egg met to form a zygote. At this point, both the DNA from the sperm and the DNA from the egg should have begun replicating themselves so that the one-celled zygote could begin making more and more cells with both sets of DNA in order to create a fully-functioning human embryo (Figure 2a). However in the case of GWUPD, for whatever reason, the genetic information from the mother did not replicate properly, leading to two populations of cells–those with DNA from both parents and those with DNA only from the father (Figure 2b).
In GWUPD patients, these different cells with different chromosomes go on to compose different parts of the body so that, depending on the tissue, the genetics may vary. For example, in the case of the nine year old Czech girl, the percentage of cells containing only her father’s DNA was 93% in her blood but 74% in her saliva. So while she is mostly composed of her father’s genetic material, she does still have some of her mother in her.
Side effects may vary
GWUPD patients often have high levels of insulin, asymmetrical body parts, seizures, severe developmental delays, are born prematurely, and/or are more susceptible to developing cancer. Since each patient derives their DNA from their individual and unique parent, the genetics of the patients vary wildly from one to the other and their symptoms vary. One of the reasons why the case of the Czech girl was so interesting to doctors was the fact that she did not present with most of these common symptoms, but instead exhibited only deafness and asymmetric legs. Although they followed her for three years (publishing the paper about her when she was 11), her doctors were unable to determine the cause of her deafness.
Stranger than fiction
We sometimes assume that creating a human life is a simple and straightforward process. However, when we see patients with GWUPD, we understand just how easily the process of creating new life can go awry. The creation of a daughter from just a man’s genetic information sounds like something from Science Fiction (and has actually been the basis for an episode of Doctor Who!), but it is a phenomenon that very much exists and can have very negative consequences. While we may joke that a child is their parent’s “mini-me,” it is interesting to note that this is an actual possibility in the world of biology. Having “too much” DNA from one parent might not seem like a problem in and of itself, but it is proof that genetic diversity is important for life.
Marina Watanabe is a PhD candidate in the Biological and Biomedical Sciences graduate program at Harvard University. She loves her potato niece very much.
Elayne Fivenson is a third-year Ph.D. student in the Biological and Biomedical Sciences program at Harvard Medical School, where she is studying the genetics and biochemistry of the bacterial cell envelope
Cover image: “Karyotype of a human male”
For More Information:
- Read about this interesting case of a patient with mostly maternal DNA who has cells that are XX (biologically female) or XY (biologically male) depending on where they are sampled from.
- Uniparental disomy is GWUPD on a small scale where only one chromosome pair or part of a chromosome pair comes from one parent. This is very different from GWUPD where almost all of the chromosomes come from one parent.
- See this Khan Academy page for an introduction to classical genetics and inheritance.
- This Khan Academy link covers meiosis and how it leads to genetic diversity. Lessons on this page explain a process called “recombination” that ensures genetic diversity in offspring. Recombination explains why siblings are genetically different from each other even though they share the same parental “source material” and why GWUPD patients cannot be regarded as clones of their fathers.
It is very interesting, since GWUPD is not common i had not put in consideration but now according to Mrs: Kimberly Mayer’s experience, I saw now it possible to have disomy and become genetically inherited in your generation.However it is still difficulty to know what type of sex is to be produced by a GWUPD Patient of high fathers’ DNA or otherwise to the mother.
Hi. Really interesting article. I shall confess, I’m not too bright when it comes to understanding articles like this, so perhaps this idea I have has been addressed in the article as to why my idea is not viable & the explanation went completely over my head (& admittedly low intellect level), but pertaining to “the reason why the single genetic parent has thus far always been the father is not yet known…”, I think a possible explanation may be found with the semi-joking part of the article which said “Before things could derail into a confusing and seemingly impossible game of “Who’s the Mommy?!,” the doctors did further genetic testing…”
Could it be possible that there have been cases in which GWUPD existed where the mother was the parent whose genes the child inherited almost exclusively, but such cases simply got written off as “Misattributed paternity”?
Of course, when scientists can’t find genes of the mother in a child who physically emerged from that mother’s womb (& who is, thus, unequivocally the mom, contradicting what the DNA analysis says), it would be so bizarre & perplexing enough to warrant further testing to get to a valid explanation as to what the heck is going on, leading to an eventual discovery of GWUPD with father-heavy traits. However, if the biological dad’s genes aren’t present, I think scientists would just write it off as “he’s not the daddy” & simply leave it at that completely valid explanation for the absence of the father’s genes, without additional testing (why would you, after all? “Another man’s kid” is perfectly a perfectly sensible explanation), & without that additional testing, they don’t ever realize that there are barely any dad genes in the kid at all, & it’s almost totally momma genes in the kid. Thus, the diagnosis is never made.
Just some food for thought.
That is really interesting. I wonder if producing a perfect clone is theoretically possible? Or you need some small amount of the mothers DNA for the DNA to be accepted by the host? I guess it going the other way with the paternal dna not replicating would also be plausible. The interesting thing is that, stuff like this might even happen. Unless a generic condition produces seriously weird and noticeable effects, the chances of getting your DNA analyzed is pretty slim. Tho that has changed a lot in the last few years.
Thank you for your very interesting article. My husband is of white, English origin, with dark brown hair and blue eyes, whilst I am of Indian origin with black hair, dark brown eyes, mid brown skin colour and distinctive sharp features.
This area has fascinated me, as neither of our two children (girls) look anything like me. They are almost carbon copies of eachother (even though they are 12 years apart in age) and they both look incredibly like their dad.
The only real difference between them is that our eldest has slightly darker eyes, hair and skin. She has hazel eyes, but the youngest has bright blue eyes. So, we were thinking that I must have an ancestor who had blue eyes (as unlikely as it seems). Our youngest daughter also has a line running down from the centre of her neck and down her chest and back, where she is darker on one side of her body and noticeably lighter on the other side. This is replicated in her hair, which is a mid brown all over, but on the half of her body that is lighter, she has a distinctive blond streak running through her hair.
We have heard of situations where a mother was carrying twins and one embryo assimilates with the other and ends up being the only child, but carries the genetics of 2 different people inside them. We thought this may have happened with our youngest daughter. However, reading your article, I am now thinking that may be my genes did not divide properly and so both our daughters took many more chromosomes from their father, explaining why they look nothing like me and why our youngest has this ‘split’ colouring. It doesn’t bother us at all, in fact we find it quite fascinating. But, from a future health and interest point of view, it would be good to know what might have been going on.
I know you can’t say anything for sure, but from your research and experience, what would be your thoughts in this situation?
Thank you for reading and I look forward to hopefully hearing from you.
A reabsorbed twin is MUCH more likely than GWUPD.
Look up chimerism!!! There is a girl who has the same mark on her, she absorbed a twin in the womb and has both of their dna in her!
It is very interesting and knowing such as , one theory is that the maternal chromosomes were present in the single-celled zygote.
Haters gonna hate. Potatoes gonna potate.
Perfect line. I died laughing.
it’s very interesting, knowing such a
rare cases, specially for me as as biological educator graduate, but what i observed is prior to the diagram provided is that, if the maternal chromosome didn’t function of recombine with the paternal DNA, then how did the girl still have a mother’s gene? (93% from the blood & only 74 from saliva are from his father) 😅?
Hi Mark,
Good question. Although the answer to your question is not known for sure, one theory is that the maternal chromosomes were present in the single-celled zygote, but the mother’s chromosomes failed to replicate as they should have. This caused an imbalanced distribution of chromosomes as that single cell become 2, then 4, then 8, and so on, with some cells harboring only dad’s DNA, and other cells harboring DNA from both parents. During development, these imbalanced cells began developing into all of the various cell/tissue types that make up the body, distributing themselves throughout the developing human. In the case described here, it seems that more of the “dad-only” cells ended up composing the blood, where as more of the “dad + mom” cells were found in the saliva. finally, in terms of your question about recombination, it appears that none occurred during meiosis (presumably because the maternal chromosomes failed to replicate, if the theory is correct).
Hello, Just wondering if a child gets both parent’s surname with their own name?? Coz in our culture it’s often said that a child continues the generation of father side, so gets father’s surname only,but what about mother who nourishes him/herin hercwomb for 9months and goes thru all the physical pains and sometimes social stress to produce a Male child,and when the baby comes to the world gets father’s name tag.what about mother??I cant get an answer.
She should be married and have his name to
The mother doesn’t have to take the child’s father’s name nor does the child have to have his name. She carried the kid for 9 months, the kid should have her name.
The kid will have her name if she’s unmarried… She can even do this with our without father’s name on birth certificate as long as she’s UNMARRIED.
It is nature finding a way… Nature always finds a way…. For years we have been hearing about the Y chromosome disappearing and thus the spike in female births….. Well… This is nature working out the equation to keep things flowing. . I bet these girls born with mostly their fathers genes will only produce male children and these male children will have non depleted Y chromosomes….
I didnt know anything about disappearing or depleted y chromosomes.
I understood that certain stresses upon the mother prior to or during conception wood make it difficult for the embryo to be conceived as or matured into a male and wonder if some females or hermaphrodites have at least some xy chromosomes that were inadequately nurtured (or-not to equate the two- feminized) by some process during embryonic development or if conversely some hermaphrodites or males have xx chromosomes but were hyper-masculinized by an analogous but masculinizing process
That’s not how it works. The father determines the gender of the baby. The woman can ONLY donate an X chromosome. If a girl with GWUPD isn’t sterile, she would have the exact same chances of having a son as any other woman.
At least, that is what I know too.
I was wondering how the human nature has suddenly shifted.
Your theory makes sense however just putting it out there . I have this disomy and I’m a female , I have more of my father’s dna than both of my brothers do . And I look way more like him as well , my brothers look just like my mom exactly. I look like a complete mashup of my father and his mother .
I have had 1 child and she is a girl!!! who looks just like me and my dad , doesn’t even look like my mom OR her father at all.
Her father is Italian with dark skin hair and eyes, she has my same blonde curls and bright blue eyes , looks nothing like him .
Interestingly though my pregnancy started out with twins one boy and one girl. The boy was absorbed by my daughter.
Me and her have been seeing geneticist for years now (for dystonia and liver/kidney problems ) and they believe that what happened to her also happened to me .
That I must have absorbed a male twin in womb as well . They are very interested in our case because this may be a disomy fully from absorption of the male. It’s crazy !!
Another cool little tidbit that blows my mind(and my neurosurgeons) is 2 years after my daughters birth I had a stem cell surgery on my neck and we know that a mother carries her child stem for for 30 or more years especially in areas of the body that were injured (I had a tear in my spinal cord and was leaking fluid as well as a fractured C3-c7 so ya BIG injury almost became paralyzed from neck down )
Idk the whole process but when he took my own stem cells and blended them for the autograft composite disk made out of my own bone and stem cells (didn’t want to use artificial disc because of the autoimmune degeneration and risk of rejection, he knew nothing was going to heal me better than my own stem cells )he said “there was 3 sets of DNA in there !!” “Your dna , your daughters dna , and a males dna!!” He’d never seen that before
he really wanted to get to bottom of it I told him how my daughter absorbed a male twin maybe that was it
It was a eureka moment for the team
He said do you know that boy saved your spine/life and we never even got to thank him !!
Nature and genes are so cool and crazy and we’ve only scratched the surface
I’m so thankful surgery worked and for that boy that’s in my spine and my daughter
He’s here even tho he’s not 😍
What an interesting story; as true as it is, it sound like a movie.
Thank you very much for shearing this; I am blessed and increased by it.
This has thinking, except I have two older siblings us 3 are from the same mother and father, and then one older brother from my mother. My sister looks identical to my mother and my brother exactly like my father, and me I guess I look like me . I have the nose of my father but only one born with bright red hair. I have hearing Loss both ears while my brothers and sister great hearing. I have 3 boys all from different fathers the two oldest both born with prominent Mongolian spots still have them to this day they are 16 and 14 now. Them my oldest and youngest have hearing Loss as well. Me and my two HOH have almost the same exact scopes off hearing Loss. Out at least we did. My hearing has gotten worse sadly but still …. Also on a side note my oldest looks just like my dad, and brother. Reading this has gotten pequed my interest in all this. Anyone know how to get these tests and if I would be able to even though my father has passed away?
Thank you for this very interesting contribution!
I did not know the phenomenon of GWUPD. I do know and agree, all newborns are potatoes.
Best wishes and good luck for your further research!
Victoria (University Diderot, Paris)
I am a father from California and I have mutated genes in my DNA. My daughter shares my same dna almost equal to mines. Of what’s considered gwupd. It’s very rare and I’m wanting to know more about this research.