Chromosome 1

Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Chromosome 1 spans about 249 million nucleotide base pairs, which are the basic units of information for DNA. It represents about 8% of the total DNA in human cells.
It was the last completed chromosome, sequenced two decades after the beginning of the Human Genome Project.
Genes
Number of genes
The following are some of the gene count estimates of human chromosome 1. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.
Gene list
The following is a partial list of genes on human chromosome 1. For complete list, see the link in the infobox on the right.
C1orf112: encoding protein Chromosome 1 open reading frame 112
C1orf127: encoding protein Chromosome 1 open reading frame 127
C1orf27: encoding protein Chromosome 1 open reading frame 27
C1orf38: encoding protein Chromosome 1 open reading frame 38
CCDC181: encoding protein Coiled-coil domain-containing protein 181
DENN1B: hypothesized to be related to asthma
FHAD1: encoding protein Forkhead-associated domain containing protein 1
LOC100132287: uncharacterized protein
LRRIQ3: encoding protein Leucine-rich repeats and IQ motif containing 3
Shisa family member 4: encoding protein Shisa family member 4
TINAGL1: encoding protein Tubulointerstitial nephritis antigen-like
p-arm
Partial list of the genes located on p-arm (short arm) of human chromosome 1:
q-arm
Partial list of the genes located on q-arm (long arm) of human chromosome 1:
Diseases and disorders
There are 890 known diseases related to this chromosome. Some of these diseases are hearing loss, Alzheimer's disease, glaucoma and breast cancer. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident.
Complete monosomy (only having one copy of the entire chromosome) is invariably lethal before birth. Complete trisomy (having three copies of the entire chromosome) is lethal within days after conception. Some partial deletions and partial duplications produce birth defects.
The following diseases are some of those related to genes on chromosome 1 (which contains the most known genetic diseases of any human chromosome):
1q21.1 deletion syndrome
1q21.1 duplication syndrome
Alzheimer's disease
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Breast cancer
Brooke Greenberg Disease (Syndrome X)
Carnitine palmitoyltransferase II deficiency
Charcot–Marie–Tooth disease, types 1 and 2
collagenopathy, types II and XI
congenital hypothyroidism
Ehlers-Danlos syndrome
Factor V Leiden thrombophilia
Familial adenomatous polyposis
galactosemia
Gaucher disease
Gaucher-like disease
Gelatinous drop-like corneal dystrophy
Glaucoma
GLUT1 deficiency syndrome
Hearing loss, autosomal recessive deafness 36
Hemochromatosis
Hepatoerythropoietic porphyria
Homocystinuria
Hutchinson Gilford progeria syndrome
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Hypertrophic cardiomyopathy, autosomal dominant mutations of TNNT2; hypertrophy usually mild; restrictive phenotype may be present; may carry high risk of sudden cardiac death
maple syrup urine disease
medium-chain acyl-coenzyme A dehydrogenase deficiency
Microcephaly
Muckle–Wells syndrome
Nonsyndromic deafness
Oligodendroglioma
Parkinson disease
Pheochromocytoma
porphyria
porphyria cutanea tarda
popliteal pterygium syndrome
prostate cancer
Stickler syndrome
TAR syndrome
trimethylaminuria
Usher syndrome
Usher syndrome type II
Van der Woude syndrome
Variegate porphyria
Cytogenetic band
References
Further reading
External links
Chromosome 01