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.
nuggets are better than dino nuggies
Their is no maternal DNA. All DNA is paternal. Women do not create life of spread DNA as a source. They carry their father’s DNA only. It is misleading to suggest otherwise. Science cannot be about lies or emotional intelligent half truths.
That doesn’t make any sense and is not scientific. There is a such thing as mitochondrial DNA.
Troll alert Troll alert troll alert
All babies don’t look alike, just because you’ve seen many who looks alot alike doesn’t mean all will look the same, if you resemble a monkey do you think every other person out there would look like one as well? Like seriously, some of u people really don’t think twice, I’m a mother as well, and I’ve seen many babies that didn’t even look at all like mines when I was in the hospital, because we all shares separate beds in one large room, some were dark, some were fair skin and some were in between, mines which was light skin resembled me, I confirmed that because many people in and out of the hospital kept saying to me “you made a you” strange but I knew what they meant, she was just a few days old when I started to wonder if people would never stop telling me that, to me she looked like well you know, her self, body but carried her own distinct features but with hearing it so many times even if I didn’t believe believe it at 1st I started accepting it and thought maybe they see what I don’t see, my baby never looked like others, some babies may look similar but not all will look the same, I can even speak for my two younger brothers who looked just like our mother and another brother of mine who looked nothing like our mom but like his dad, (half brother) I have 3 elder sisters, one looked like our mom but had her grandma’s nose even in pictures as a baby and looked nothing like me when I was a baby, my oldest sister looked like her dad though, split image, if he was to somehow go back to look like 38 as his daughter currently is I’m sure people would wonder if that’s his twin and when she was a baby she also looked very much like him, I also looked like my dad, my aunt tried to deny that fact because she didn’t wanna accept the fact that I was her niece because she and my mom had issues back then but people told my mom that anybody who says that I don’t look like my dad either had to be blind or extremely foolish, even today I look like my dad extremely alike if u ask me, anytime I look at myself in the mirror I see his face in my reflection that’s how much we resemble each other I don’t have any disease though, that’s for sure, unsurprisingly I also look like his younger brother and their mom because they look like her and each other so it makes perfect sense why I’ll have resembling characteristics to the three of them, their sister is a different story though, I also saw pics of some of my cousins who don’t even look like me at new born age, whether they were a bit cuter or average they still never looked like me, noe my sisters, nor each other, nor other cousins, although I heard it’s a bit possible that a whole two or three generations could end up with similar characteristics though but it it all depends on genes, baby self don’t even look like babies who unrelated to me, I’m not denying that some of them don’t look alike but not all, I used to hear my mom say the same thing your saying and I never believed her because I think that’s just a guess people tend to make especially when their just being ignorant and foolish and don’t tend to think before they talk, some people,not all, you were right to say “haters would hate”cuz u know tilly well how stupid that comment was and therefore it makes the commenter stupid, now I say (haters will hate) but you know what, I don’t care, y’all could hate me for this comment if u like I just don’t like when people assume things especially when it’s not true or just have a small percentage of truth to it, it’s like the saying that “black ken have large dongs” when majority of the whole world probably already know that’s just an assumption because of a few experience so they decide to clunk all black men in the same category, which is called stereotyped, so yeah, your stereotyping all babies in one category and I don’t like it one bit duss if u want don’t care, u probably don’t even have children yourself in all your paragraphs it all just seems as if your motherless and don’t know what an actual baby maracle is, which in tern kinda sound like the things a JEALOUS person would say, not really assuming though, u could be a mother for all I know, your neice isn’t a potato by the way and she will never look like one no matter how much u wish for it even if I have never met her b4, in fact, your the one who resemble a fat and round potato, how dare u insult those beautiful gifts given from god, are u mad?? If u wanna accept the fact that u looked like a potato when u were a baby then that’s your business but don’t say all babies…,I’m pretty sure one day u will have children of your own if u haven’t and u may not even like it If people say your baby look like a potato or like all other baby to u (and who knows, you could be a mother of unattractive babies and jealous of your pretty niece…), so stop, just stop right there, it’s not gonna bring u anywhere, and If you or anyone else wanna call this over exaggeration then be free to state so if y’all like but I say what I want, if u can, then I can as well…end of story!
TLDR. TLDR. TLDR
I agree! Not all babies look like potatoes! Some babies look like Winston Churchill!
I am a 60 yr old female & did a dna saliva test and found out I am 100% my father! I gave birth to a daughter with numerous medical issues along with mental retardation and at age 26 they found out she has q6 deletion syndrome!