HANS BERNHARD, text
genetics , binary; sequences
genetic sequences
mailaise
CHROMOSOME 14 / k14 [homo sapiens - chromosome 14 long arm]
1. K14_ANIMATION
1. K14_MARKERS
1. K14_CONTIG
0. how
to obtain human library BAC clones
comment:
Chromosome 14 Ring is a rare disorder
that is characterized by abnormalities
of the 14th chromosome. Affected infants and children typically have delays
in the acquisition of skills that require the coordination of physical and mental
activities (psychomotor delays), mental retardation, growth delays, and episodes
of uncontrolled electrical activity in the brain (seizures). The disorder is
also
characterized by distinctive abnormalities of the head and facial (craniofacial)
area. Such abnormalities may include an unusually small head (microcephaly)
with a high forehead; an elongated face; widely spaced eyes (ocular hypertelorism);
a thin upper lip; a flat nasal bridge with a prominent nasal tip; and large,
low-set
ears. Chromosome 14 Ring results from loss (deletion) of genetic material from
both ends of the 14th chromosome and joining of the ends to form a ring.
Associated symptoms and findings may vary, depending upon the amount of
genetic material lost from the 14th chromosome or the stability of the ring
chromosome during subsequent cellular divisions (i.e., mitosis). Evidence suggests
that Chromosome 14 Ring may result from relatively small deletions of genetic
material from the long arm (q) of chromosome 14 (14q).
in
the context of the international effort to sequence the human genome [nature
398:177 [1999] ; science 283:1822 [1999]] HANS BERNHARD is resequencing
parts of the long arm of the chromosome 14.
step # of BACs nnon-redundantsize [kb]
percent of total achievement
assembled 137.2 %
being sequenced 37.1 %
in library 5.8 %
total 186.1
* consult the chromosome 14 long arm marker or sequencing.
* access the graphical representation of the progress of the chromosome
14 long arm K14_ANIMATION, K14_MARKERS, K14_CONTIG.
Developmental function of the new
Alzheimer gene on chromosome 14?
vienna, JUN-10-2002, Alzheimer researchers are looking forward eagerly to know
more about the functions of the recently discovered proteins encoded by the
genes on chromosome 14 and on chromosome 1. Now, Leviton and Greenwald, in Nature
377, 351-54 (28 Sept 95), report the discovery of a new gene in the nematode
worm Caenorhabditis elegans (SEL-12) that has an overall identity of 48% with
S182, the 'Alzheimer chromosome 14 gene'. SEL-12 seems to co-operate with LIN-12,
a membrane receptor related to Notch that is involved in cell fate decisions
during development. Many different cell fate decisions are specified by lin-12/Notch
genes in C. elegans and Drosophila, and in both organisms some of these decisions
are critical for neurogenesis. Interestingly, four of the five mutations in
S182 found in individuals affected by Alzheimer's disease alter amino acids
that are identical in SEL-12 and S182, suggesting that the elucidation of the
functions of this 'worm protein' may also stimulate research concerned with
Alzheimer pathogenesis. It is too early to speculate about details, but it seems
that these studies again reinforce the hypothesis that Alzheimer's disease has
something to do with brain development, and that the conservation of many molecular
and cellular processes during evolution enables us to take advantage of data
obtained in studies dealing with very different kinds of model organisms.
the rules of the International Union of Pure and Applied Chemistry [IUPAC]:
A = adenine, C = cytosine, G = guanine,
T = thymine
U = uracil, R = G A [purine], Y = T C [pyrimidine]
K = G T [keto], M = A C [amino]
S = G C, W = A T
B = G T C, D = G A T, H = A C T, V = G C A
N = A G C T [any]
source: dna sequence formats
copyright 2002 HANS BERNHARD