for Heterogeneity in Recombination in the Human Pseudoautosomal Region:
High Resolution Analysis by Sperm Typing and Radiation-Hybrid Mapping
ratio distortion in bovine sperm correlates to recombination in the pseudoautosomal
growth hormone and kappa-casein gene polymorphism in Polish Red and German
Red cattle breed
A note on transferrin
polymorphism in the blood serum of arctic (Alopex lagopus) and silver
(Vulpes vulpes) fox
of blue coat colour intensity and genetic parameters of skin size and quality
in arctic fox (Alopex lagopus L.)
and environmental trends of conformation traits in arctic fox Alopex
genetic and error variance components for conformation and coat traits
in arctic fox Alopex lagopus (L.)
determination of reproduction traits in silver fox (Vulpes vulpes)
parameters of coat colour in golden fox (Vulpes vulpes L.)
of melanin biosynthesis on the coat colour of animals
regression approach to modelling the variability of recombination rate
Evidence for Heterogeneity in Recombination
in the Human Pseudoautosomal Region:
High Resolution Analysis by Sperm
Typing and Radiation-Hybrid Mapping
Sigbj°rn Lien,1,4 Joanna Szyda,2 Birgit Schechinger,3 Gudrun
Rappold,3 and Norm Arnheim4
1 Department of Animal Science, Agricultural University of Norway, Aas,
2 Department of Genetics, Wroclaw Agricultural University, Wroclaw,
3 Institute of Human Genetics, Karl-Ruprecht University of Heidelberg,
Heidelberg, Germany; and
4 Molecular Biology Program, University of Southern California, Los
Received April 28, 1999; accepted for publication September 28, 1999;
electronically published January 27, 2000.
Accurate genetic and physical maps for the human pseudoautosomal region
were constructed by use of sperm typing and high-resolution radiation-hybrid
PCR analysis of 1,912 sperm was done with a manual, single-sperm isolation
method. Data on four donors show highly significant linkage heterogeneity
individuals. The most significant difference was observed in a marker
interval located in the middle of the Xp/Yp pseudoautosomal region, where
one donor showed a particularly high recombination fraction. Longitudinal
models were fitted to the data to test whether linkage heterogeneity among
donors was significant for multiple
intervals across the region. The results indicated that increased recombination
in particular individuals and regions is compensated for by reduced recombination
neighboring intervals. To investigate correspondence between physical
and genetic distances within the region, we constructed a high-resolution
containing 29 markers. The recombination fraction per unit of physical
distance varies between regions ranging from 13- to 70-fold greater than
to full text
Sex ratio distortion in bovine sperm
correlates to recombination in the pseudoautosomal region
JOANNA SZYDA 1, HENNER SIMIANER 2 and SIGBJRN LIEN 3
1 Department of Animal Genetics, Wroclaw Agricultural University,
Kozuchowska 7, 51-631 Wroclaw, Poland
2 Department of Animal Husbandry and Animal Breeding, Animal Genetics
Group, University of Hohenheim (470/HG), 70593 Stuttgart, Germany
3 Department of Animal Science, Agricultural University of Norway,
1432 ?s, Norway
(Received October 23, 1998; Revised May 28, 1999)
A total of 2122 single sperm from 35 bulls belonging to six different
paternal half-sib groups were analysed with respect to two markers in the
pseudoautosomal region (PAR) and sex- specific loci on the X and Y
chromosomes, respectively. A segregation ratio significantly different
from 1[ratio]1 was
observed in a test over all families, with a higher proportion of X-bearing
gametes (53í5%). The analysis of recombination conducted separately for
Y-bearing sperm showed that X-bearing sperm cells possess highly significant
individual and between-family variability in recombination rate, whereas
sperm show linkage homogeneity. To test whether the two phenomena are
related, different logistic regression models were fitted to the data.
The results show that
sex ratio significantly correlates with changes in recombination rate
among X-bearing but not among Y-bearing sperm. Different hypotheses to
observations are discussed.
to full text
Journal of Applied Genetics 41(3), 2000, 181-185.
Comparison of growth hormone and kappa-casein
gene polymorphism in Polish Red and German Red cattle breed
Jind°ich ╚═TEK , Andrzej FILISTOWICZ
, Vßclav ěEHOUT , Výra NEUBAUEROV┴
Abstract: The polymorphism of kappa-casein
(alleles A, B and E) and growth hormone (alleles L and V) genes was studied
using PCR/RFLP method with the aim to evaluate the degree of genetic diversity
of Polish Red and German Red cattle, which are endangered with extinction.
At the kappa-casein locus, a very low frequency of allele B in German Red
cattle was found. In both the breeds, allele E was absent. There was a
relatively high frequency of allele L in the growth hormone locus, especially
for German Red cattle. The results were compared with frequencies and diversities
of other red cattle breeds.
Animal Science Papers and Reports 18(3), 2000, 217-222.
A note on transferrin polymorphism in the blood
serum of arctic (Alopex lagopus) and silver (Vulpes vulpes)
Magdalena Zato˝, Jacek Ku╝miak,
Leokadia Bicka, Andrzej Filistowicz
Abstract. The frequency of transferrin
genotypes and alleles in the blood serum was analysed in 106 arctic foxes
and 93 silver foxes. The electrophoresis was performed in 7.5% polyacrylamide
gel. Three alleles were found: TfF , TfS and TfD.
Variants F and S occurred in the arctic (0.604 and 0.396, respectively),
while F and D in silver fox (0.758 and 0.242, respectively).
Zeszyty Naukowe AR Wroc│aw, Zootechnika
XLV, 362, 1999, 227-242
Inheritance of blue coat colour intensity
and genetic parameters of skin size and quality in arctic fox (Alopex
Abstract. The aim of the study was
the attempt of determination of principles of blue coat colour intensity
inheritance in Arctic foxes. Moreover, genetic parameters (coefficients
of heritability, phenotypic, genetic and environmental correlations) of
skin characteristics affecting its price at the auction-house were estimated.
The animals taken for the study consisted of 1553 foxes
bred on the Žniaty Fox Farm in the years 1997-1998. Genetic parameters
were estimated with the use of REML method. Analysis of coat colour intensity
among parents and progeny was performed in order to explain the rules of
inheritance of fur coloration. The results obtained suggest that
coat colour intensity is determined by polygenes and is inherited like
a quantitative character. The genetic parameters of the skin traits indicate
that effective breeding programmes basing on population genetic variability
and correlations between skin traits can be applied.
Journal of Applied Genetics 41(2), 2000, 113-122.
Genetic, phenotypic and environmental trends
of conformation traits in arctic fox Alopex lagopus (L.)
Wierzbicki H., Filistowicz A., Przysiecki P.
Data on 3782 arctic foxes, bred on a Žniaty fox farm (Poland) in 1985-1998
were used to estimate the genetic, phenotypic and environmental trends
of conformation traits. Body size (BS), colour type (CT), colour purity
(CP), coat density (CD), hair length (HL), general appearance (GA)
and total score (TS) were analysed. The BLUP with a single-trait animal
model was used to estimate the genetic trends. The estimates of genetic
and phenotypic trends were positive for BS, CT, CP, HL, GA, TS and ranged
from 0.0006 to 0.0995 point/year and from 0.0100 to 0.1302 point/year,
respectively, but were negative for CD (-0.0374 point/year and ľ0.0262
point/year, respectively). The environmental trends ranged from ľ0.0024
point/year for CT to 0.0304 point/year for TS.
Scientifur 24(3), 2000, 217-222.
Additive genetic and error variance components
for conformation and coat traits in arctic fox Alopex lagopus (L.)
Abstract. Records of 3782 arctic
foxes were used for estimation of additive genetic and error variance components
for conformation and coat traits. Body size (BS), colour type (CT), colour
purity (CP), coat density (CD), hair length (HL), general appearance (GA)
and total score (TS) were analysed. The variance components were estimated
by the Restricted Maximum Likelihood (REML) method with an univariate animal
model. Since data exhibited skewed distribution (skewness ranged from 0.0110
for CP to ľ3.8631 for TS) the probit transformation was applied. Both transformed
and untransformed data were used for the estimation of variance components.
Transformation of the data resulted in reduced estimators of variance components,
and in consequence, lower heritability estimates for studied traits were
obtained (heritabilities ranged from 0.266 for GA to 0.533 for HL).
Animal Science Papers ans Reports, 18(3), 2000, 209-216.
Genetic determination of reproduction traits
in silver fox
Przysiecki P., Wierzbicki H., Filistowicz A.
Abstract. Reproductive performance
of 1304 males (date of birth, first and last mating in the season, age
of reproductive maturity, length of reproductive season) and 2914 females
(date of birth, mating, littering, age of reproductive maturity, length
of pregnancy, number of pups born and reared and pup losses) of silver
fox during the first reproductive season was evaluated. Heritability of
the features and genetic and phenotypic correlations between traits were
estimated. The results suggest considering all analysed features in males
and females selection directed towards high fertility, but birth term should
be the first natural criterion in young animals selection. The other features
should be essential criteria of culling animals due to poor reproduction.
Journal of Applied Genetics 41(4), 2000,
Genetic parameters of coat colour in golden
(Vulpes vulpes L.)
Filistowicz A., Przysiecki P., Wierzbicki H.,
Filistowicz A, Tokarska M.
Abstract. Genetic parameters (heritability,
genetic and phenotypic correlations) of chosen coat colour traits of golden
fox were estimated. 1013 animals, born on
the Žniaty fox farm (Poland) in 1985-1999 were evaluated. In 1993-1999
colour type was additionally assessed for 833 animals, by detailed evaluation
of coat colour on the back and sides of the body, throat colour, belly
colour and the amount of silver hair. The REML method was used to
estimate genetic (co)variance components. Data were transformed using the
probit transformation. Heritability estimates for coat traits were low
(0.04 to 0.22). Values of most of the estimated genetic parameters (h2,
rG, rP) were comparable to those frequently reported
for other colour types of silver fox.
Medycyna weterynaryjna, 56(11),2000, 695-699.
Effect of melanin
biosynthesis on the coat colour of animals
Abstract. The formation of melanin
pigment is a complex event requiring several enzymes and proteins, and
the pigment-containing subcellular organelle, the melanosome. The process
is regulated by many loci encoding proteins, that are required for the
development of several cell lineages. The biosynthesis of melanin depends
on the metabolism of amino acid L-tyrosine. The copper containing enzyme
- tyrosinase is the major factor involved in the melanin chemical pathway
which results in either black-brown eumelanin or red-yellow phaeomelanin.
Generally, melanin biosynthesis is modulated by variety of hormones and
neurotransmitters acting on transmembrane receptors located on the cell
surface. Alpha-melanocyte-stimulating hormone (a
-MSH), melanin-concentrating hormone (MCHA), melatonin and catecholamines
are the most important pigment cell agonist. Growth factors such as basic
fibroblast growth factor (bFGF), hepatocyte growth factor (HGF) and mast
cell growth factor (MGF or KIT ligand) modulate the melanogenic
processes as well. Mutations at loci encoding factors determining pigmentation,
produce pleiotropic effects on viability as well as hematopoiesis and fertility.
Szyda, J., Simianer, H. and Lien, S.
Logistic regression approach to modelling the
Journal of Animal Breeding and Genetics 117, 17-24.
The objective of the paper is to quantify the relationship between
recombination rate and factors such as: "sex of sperm", paternal halfsib
family, and individual, using logistic regression modelling. The
analysed data set consists of 2214 single bovine sperm cell samples.
Haplotypes at each single sperm were determined at eleven marker loci
forming eight intervals located on chromosomes 6, 23 and X/Y. The
experimental design comprises six paternal halfsib families. Six
logistic regression models are fitted to the data from each interval.
Departure from commonly assumed homogenous recombination is detected
one marker interval on chromosome 23 - influence of individual and
of sperm" by family interaction, and for both intervals mapped to sex
chromosomes - influence of "sex of sperm" and paternal halfsib family